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Pradhan, Devina, Tarang Mehta, Arpita Srivastava, Deepak Patel, Kailash Chandra Dash, Vidya Hittalamani, and Ramanpal Singh Makkad. "Evaluation of the Importance of Genetic Polymorphisms in Genes Expressing Cancer-Metabolizing Enzymes (Cyp1a1 and Gstm1) in Oral Submucous Fibrosis." Journal of Pharmacy and Bioallied Sciences 16, Suppl 3 (June 7, 2024): S2785—S2787. http://dx.doi.org/10.4103/jpbs.jpbs_413_24.
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ABSTRACT Background: Genetic polymorphisms are common and contribute significantly to human illnesses. Aim: This study was carried out to evaluate the importance of genetic variations in the genes expressing cancer-metabolizing enzymes (CYP1A1 and GSTM1) in individuals experiencing oral submucous fibrosis (OSMF). Methods and Materials: Based on the clinical and histological characteristics of OSMF, 40 patients were chosen for the study; 10 of these patients had considerable polymorphism and malignant transformation; therefore, they were placed in a different group. After receiving written agreement, 30 normal subject patients were also picked for the study. For both normal and OSMF patients, tissue samples and 2 ml of peripheral venous blood were drawn from the arm vein and placed in a heparinized test tube. Electrophoresis on 0.8% agarose gel was used to verify genomic DNA. Results: The GSTM1 polymorphism, CYP1A1 polymorphism was 10.41% and 15.27% in normal subjects. The GSTM1 polymorphsm, CYP1A1 polymorphism was 16.21% and 8.14% in early OSMF. The GSTM1 polymorphsm, CYP1A1 polymorphism was 20.31% and 28.56% in moderate OSMF. The GSTM1 polymorphsm, CYP1A1 polymorphism was 8.12% and 12.54% in moderate OSMF. Finally, GSTM1 polymorphism was 60.47% in OSMF+ CA, while CYP1A1 polymorphism was 40.21%. The GSTM1 gene polymorphism and CYP1A1 gene polymorphism were maximum in OSMF+ CA category. Conclusion: There is a significant role of genetic variations in the genes expressing cancer-metabolizing enzymes (CYP1A1) and GSTM1 in individuals experiencing OSMF.
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Ventriglio, A., A. Petito, A. Gentile, G. Vitrani, I. Bonfitto, A. C. Cecere, A. Rinaldi, et al. "Pharmacodynamic targets of psychotic patients treated with a long-acting therapy." European Psychiatry 41, S1 (April 2017): S366—S367. http://dx.doi.org/10.1016/j.eurpsy.2017.02.370.
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IntroductionGiven the poor compliance of schizofrenic patients to antipsychotic therapies, are been developed drugs in long-acting formulation that for their pharmacokinetic ensures prolonged therapeutic activities. Currently, we consider that their efficacy depends on hereditary tracts, influencing both pharmacodynamic and pharmacokinetic parameters.ObjectiveInvestigate relationships between clinical efficacy and genetic polymorphims of long-acting drugs’ pharmacodynamic targets.MethodsSeventy-eight psychotic patients, treated with atypical long-acting antipsychotics (olanzapine pamoate, paliperidone palmitate, risperidon and aripiprazole), were examined. We carried out a blood sampling to evaluate dopaminergic DRD2 and glutamatergic GRM3 genetic receptors polymorphisms. PANSS and BPRS scales were used to assess clinical condition.ResultsRegarding the GRM3 genes, the study of rs2228595 and rs6465084 polymorphisms showed a prevalence of wild type genotypic frequency of 81.2% and 56.2%, respectively. The prevalence of the patients with mutated heterozygote genotype (rs6465084 polymorphisms) resulted high (40.6%). Considering rs1989796 e rs274622 polymorphisms, the sample showed a prevalence of mutated heterozygote genotype in the 53.1% e 45.3%, respectively, with a percentage of 43.7% of patients with a mutation in homozygosis. Considering the rs146812 polymorphism, the 53.1% of patients resulted with a wild type genotype. Finally, findings showed a prevalence of 56.2% for the mutated heterozygote genotype in the DRD2 rs6277 polymorphism. The genotypic categorization analysis demonstrated a significative association between the GRM3 rs274622 polymorphism and higher BPRS scores.ConclusionsThe relationship between rs274622 polymorphism and worse clinical conditions could indicate a major resistance to long-acting antipsychotics in patients with genotypic frequency CT (mutated heterozygosis) for this polymorphism.Disclosure of interestThe authors have not supplied their declaration of competing interest.
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Dakota, Iwan, Muhamad Fajri Adda’i, Rido Maulana, Ignatius Ivan, Renan Sukmawan, and Bambang Widyantoro. "Association between vitamin D receptor gene polymorphism and essential hypertension: An updated systematic review, meta-analysis, and meta-regression." PLOS ONE 19, no. 12 (December 23, 2024): e0314886. https://doi.org/10.1371/journal.pone.0314886.
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The association between Vitamin D Receptor (VDR) gene polymorphisms and essential hypertension (EH) remains controversial. We searched databases (Cochrane Library, EBSCO, EMBASE, LILACS, ProQuest, PubMed, Science Direct, Springer) for studies on VDR gene polymorphisms and EH until May 30, 2024, following PRISMA guidelines. RevMan 5.4.1 provided pooled odds ratio (OR) under Hardy-Weinberg Equilibrium based on allele, additive, dominant, and recessive genetic models. Meta-regression was performed using Comprehensive Meta Analysis V3. Twenty-two studies from thirteen countries were analyzed. The recessive model suggested lower EH risk in individuals with the recessive allele (bb) of BsmI (OR: 0.81; 95%CI, 0.69 to 0.94, p = 0.007; I2 = 35%, p = 0.13). No significant associations were found for FokI, ApaI, and TaqI polymorphisms. Methodological quality significantly influenced EH risk associated with the FokI polymorphism across allele, additive, and dominant models (All p<0.0005). Male proportion influenced EH risk in the additive model for the FokI polymorphism (p = 0.0235), while age impacted risk in the recessive model (p = 0.0327). FokI polymorphism’s influence on EH risk varies by sex, age, and study quality. BsmI polymorphism is independently associated with lower EH risk in recessive homozygotes, with no significant associations found for ApaI and TaqI polymorphisms.
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Katagiri, Seiichiro, Tetsuzo Tauchi, Tomohiro Umezu, Kazuhiro Ohtsuki, Kenichi Tadokoro, Yoshinori Yamamoto, Junko H. Ohyashiki, and Kazuma Ohyashiki. "High Frequencies Of Switching To 2nd TKIs and Failure To Maintain Standard Imatinib Dose In Japanese CML Patients With BIM Genetic Variants." Blood 122, no. 21 (November 15, 2013): 4021. http://dx.doi.org/10.1182/blood.v122.21.4021.4021.
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Abstract Recently, it has been demonstrated that the proapoptotic protein BIM showed a deletion polymorphism at exon 3 in eastern Asian population, and some CML patients with the BIM deletion polymorphism are resistant to imatinib treatment (Ng et al. Nature Medicine, 2012). More recently, a BIM single nucleotide polymorphism (SNP) at exon 8 (c465C>T) has also been found in French CML patients and this SNP is associated with not only imatinib resistance but also the presence of BCR-ABL mutations (Mahon et al. ASH abstract, 2012). We aimed to investigate a possible association between such genetic variations of BIM and clinical manifestation in Japanese CML patients who experienced undetectable minimal residual disease (UMRD: so-called CMR4.5). In this study, we newly analyzed BIM SNP (c465C>T) in 47 CML-UMRD patients with known BIM deletion polymorphism status (Katagiri et al. Br J Haematol, 2013). Twenty normal subjects were used as controls. The frequency of either BIM SNP at exon 8 or BIM deletion polymorphism did not deviate from the normal subjects in the Japanese population (P = 0.7597 and P = 0.2880, respectively). None of the subjects showed both BIM SNP at exon 8 and BIM deletion polymorphism concomitantly. We then compared the clinical features among 3 CML-UMRD groups: patients with BIM SNP, patients with BIM deletion polymorphism, and patients who showed neither BIM SNP nor BIM deletion polymorphism (no genetic variations). The frequency of CML patients who maintained 400 mg imatinib dose until stopping was significantly higher in those without genetic variations than in those with BIM SNP or BIM deletion polymorphism (P = 0.0002). Moreover, the frequency of CML patients who switched to second tyrosine kinase inhibitors (2nd TKIs) was significantly higher in those with BIM SNP or BIM deletion polymorphism than in those without such polymorphisms (P = 0.0055).Number of CML patientsMaintained IM 400 mgChange of imatinib dose2nd TKIs switchingBIM SNP (c465C>T)11/474/115/112/11BIM deletion polymorphism6/471/63/62/6BIM SNP or deletion polymorphism17/475/178/174/17No BIM genetic variationss30/4725/305/300/30 This is apparently the first study to circumstantiate the BIM genetic variants in Japanese CML patients with UMPD. Although the number of patients is small, our results suggest that CML patients without BIM deletion polymorphism/SNP could be maintained under standard imatinib dose without switching to 2nd TKIs, and thereby, have a possibility to stop TKIs therapy. Disclosures: Ohyashiki: Norvartis KK: Research Funding, Speakers Bureau; Bristol Meyer Squibe KK: Research Funding, Speakers Bureau.
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Kulig, Hanna, Marek Kmieć, and Katarzyna Wojdak-Maksymiec. "Associations between Leptin Gene Polymorphisms and Somatic Cell Count in Milk of Jersey Cows." Acta Veterinaria Brno 79, no. 2 (2010): 237–42. http://dx.doi.org/10.2754/avb201079020237.
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A total of 181 Jersey cows were used to investigate how leptin gene polymorphisms affect somatic cell count (SCC) in milk. Three single nucleotide polymorphisms were genotyped, namely the R4C polymorphism in exon 2, the Sau3AI polymorphism in intron 2 and the A59V polymorphism in exon 3. The genotype and allele frequencies for each polymorphism and the haplotype frequencies for all polymorphisms were estimated in the herd under study. Statistical analysis revealed that the R4C and Sau3AI polymorphisms significantly affected SCC (P ⪬ 0.01) with C and T as a desirable allele, respectively. No associations were found between the A59V polymorphism and SCC in this study. However, all the genotype combinations (haplotypes) significantly affected this trait. The results indicate that selection for the R4C CC and Sau3AI TT animals might contribute to a reduction of SCC in Jersey cattle.
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Sugawara, T., E. Nomura, T. Sagawa, N. Sakuragi, and S. Fujimoto. "CYP1A1 polymorphism and risk of gynecological malignancy in Japan." International Journal of Gynecologic Cancer 13, no. 6 (2003): 785–90. http://dx.doi.org/10.1136/ijgc-00009577-200311000-00009.
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The incidence of endometrial cancer and ovarian cancer in Japan has been increasing in recent years. Results of epidemiologic studies suggest that the onset and multiplication of these cancers are associated with estrogen. Estrogens are metabolized by cytochrome P450 1A1 (CYP1A1) and converted into catecholestrogens, which are carcinogens. CYP1A1 has several polymorphisms, the major one being T6235C transition in the non-coding 3′-flanking region (MspI polymorphism), and another being A4889G transition in exon 7 (Ile/Val polymorphism). These polymorphisms can affect the metabolites of estrogens and contribute to the susceptibility to gynecological malignancy. In this study, to determine whether CYP1A1 polymorphism plays a role in the development of gynecological malignancy in the Japanese population, we assessed the association of CYP1A1 polymorphism in Japanese patients with gynecological malignancy in comparison to that in controls. The odds ratios (ORs) of Ile/Val polymorphism were 1.16 in ovarian cancer patients and 1.70 in endometrial cancer patients. The ORs of MspI polymorphism were 1.33 in ovarian cancer patients and 0.88 in endometrial cancer patients. No significant association was found between these CYP1A1 polymorphisms and gynecological malignancy. Although the frequency of CYP1A1 polymorphism in the Japanese population is higher than that in the Caucasian population, CYP1A1 polymorphism is not related to gynecological malignancies in Japanese population.
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Fitriyani, Hilda, Delyuzar, and Hidayat. "Identification of CYP1A1 Gene Polymorphism in Squamous Cell Carcinoma and Cervical Adenocarcinoma." Majalah Patologi Indonesia 29, no. 2 (May 1, 2020): 65–70. http://dx.doi.org/10.55816/mpi.v29i2.410.
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BackgroundCervical cancer is the third most common cancer in women with risk factor of smoking, high parity, long term use of oralcontaception that are associated with chemical carcinogenesis. Chemical carcinogenesis require biotransfor-mation of lipophilicsubstrates to hydrophilic metabolites, therefore facilitating their secretion from the human body. Cytochrome P450 (CYP) is one ofgenes that have important role in this process. Benzo[α]pyrene and estrogen have a common biotransformation process which ismetabolized by CYP, particularly CYP1A1. The objectives to identify the frequency and distribution of CYP1A1 gene polymorphismin squamous cell carcinoma and adenocarcinoma of the cervix.MethodsThis is an analytical descriptive study with cross sectional approach. CYP1A1 gene polymorphism (3801T/C or Ile462Val) wasanalyzed using PCR-RFLP method followed by gel electrophoresis.ResultsCYP1A1 gene polymorphisms (3801TC) in squamous cell carcinoma were 50% heterozygote T/C, 36% wild-types T/T and 14%homozygote C/C. CYP1A1 gene polymorphisms (3801TC) in adenocarcinoma were 60% heterozygote T/C and 40% wild-types T/T.CYP1A1 gene polymorphisms (Ile462Val) in squamous cell carcinoma were 97.2% heterozygote Ile/Val, and 2.8% homozygoteVal/Val. CYP1A1 gene polymorphisms (Ile462Val) in adenocarcinoma were 100% heterozygote Ile/ValConclusionThe most common type of CYP1A1 gene polymorphism (3801TC and Ile462Val) in squamous cell carcinoma and adenocarcinomaof the cervix were heterozygote.
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SCHMIDT, KLAUS, and ANATOLY VERSHIK. "Algebraic polymorphisms." Ergodic Theory and Dynamical Systems 28, no. 2 (April 2008): 633–42. http://dx.doi.org/10.1017/s0143385707001022.
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AbstractIn this paper we consider a special class of polymorphisms with invariant measure, the algebraic polymorphisms of compact groups. A general polymorphism is—by definition—a many-valued map with invariant measure, and the conjugate operator of a polymorphism is a Markov operator (i.e. a positive operator on L2 of norm 1 which preserves the constants). In the algebraic case a polymorphism is a correspondence in the sense of algebraic geometry, but here we investigate it from a dynamical point of view. The most important examples are the algebraic polymorphisms of a torus, where we introduce a parametrization of the semigroup of toral polymorphisms in terms of rational matrices and describe the spectra of the corresponding Markov operators. A toral polymorphism is an automorphism of $\mathbb {T}^m$ if and only if the associated rational matrix lies in $\mathrm {GL}(m,\mathbb {Z})$. We characterize toral polymorphisms which are factors of toral automorphisms.
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Horst-Sikorska, Wanda, Magdalena Ignaszak-Szczepaniak, Michalina Marcinkowska, Marta Kaczmarek, Malgorzata Stajgis, and Ryszard Slomski. "Association analysis of vitamin D receptor gene polymorphisms with bone mineral density in young women with Graves' disease." Acta Biochimica Polonica 55, no. 2 (May 26, 2008): 371–80. http://dx.doi.org/10.18388/abp.2008_3085.
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Graves' (GD) hyperthyroidism induces accelerated bone turnover that leads to decreased bone mineral density (BMD). The role of the VDR gene in predisposition to primary osteoporosis has been recognized. Recent studies show associations between the VDR gene polymorphisms and susceptibility to autoimmune diseases. Here we analyzed if VDR gene polymorphisms: BsmI, ApaI, TaqI, and FokI may predispose women with Graves' hyperthyroidism to BMD reduction or to disease development. The subjects were 75 premenopausal female Polish patients with GD and 163 healthy women. The genotyping was performed by the use of the restriction fragment length polymorphism analysis (RFLP). We studied the association of the VDR polymorphisms and their haplotypes with patients' BMD and also SNPs and haplotypes association with Graves' disease. We found a strong linkage disequilibrium for the BsmI, ApaI, and TaqI polymorphims that formed three most frequent haplotypes in Graves' women: baT (47.9%), BAt (34.9%), and bAT (16.4%). We did not show statistically significant association of analyzed VDR polymorphisms or haplotypes with decreased bone mineral density in Graves' patients. However, the presence of F allele had a weak tendency to be associated with Graves' disease (with OR=1.93; 95% CI: 0.97-3.84; p=0.058). VDR gene polymorphisms do not predict the risk of decreased BMD in Polish women with Graves'. It may be speculated that the F allele carriers of the VDR-FokI polymorphism are predisposed to Graves' disease development.
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Farhanah, Nur, Muhammad Hussein Gasem, and Sultana MH Faradz. "Polymorphisms of TLR4 Asp299Gly and TNF-α -308G/A in Leptospirosis." Journal of Biomedicine and Translational Research 2, no. 1 (July 30, 2016): 17. http://dx.doi.org/10.14710/jbtr.v2i1.580.
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AbstractBackground : TLR4 Asp299Gly and TNF-α -308G/A polymorphisms have been shown to be associated with increased susceptibility and severity of infection. TLR4 Asp299Gly polymorphism could affect the host’s ability to respond to leptospira sp. TNF-α -308G/A polymorphism, is associated with the high producer of TNF-α.Methods : Total of 36 leptospirosis patients (IgM anti leptospira and MAT positive) and healthy individual with the equal number were included. The polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using site spesific restriction enzyme.Results : Distribution of homozygous wild-type TLR4 Asp299Gly polymorphism was higher in both of groups ( 94.5:97.2%.) and homozygous mutant allele was absent. There was not significantly difference of TLR4 Asp299Gly in leptospirosis patients and healthy group ( ρ=1.00; OR 0.5; 95%CI, 0.04-5.6) and between mild and severe leptospirosis (ρ=0.54; OR 1.54 ; 95% CI, 1.20-1.98). The presence of homozygous wild-type TNF-α -308G/A polymorphism was higher between leptospirosis patients and healthy group (100:94.5%) andhomozygous mutant allele was not found in both of the groups. No significantly different of TNF-α -308G>A polymorphism between leptospirosis patient and healthy group (ρ=0.49).Conclusions : In this study, the polymorphisms of TLR4 Asp299Gly and TNF-α -308G/A were not associated with the susceptibility and severity of leptospirosis. Keywords : Leptospirosis, TLR4 Asp299Gly polymorphism, TNF-α -308G/A polymorphism
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Taneja, Nancy, Rajesh Khadagawat, and Shalini Mani. "BSMI AND TAQI POLYMORPHISMS IN VITAMIN D RECEPTOR GENE OF TYPE 2 DIABETES MELLITUS PATIENTS FROM NORTH INDIA." Asian Journal of Pharmaceutical and Clinical Research 9, no. 9 (December 1, 2016): 186. http://dx.doi.org/10.22159/ajpcr.2016.v9s3.14875.
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ABSTRACTObjective: Polymorphisms in vitamin D receptor (VDR) genes are known to be linked with different metabolic diseases including Type 2 diabetesmellitus (T2DM) also. However, the association of these polymorphisms is not much explored for the Indian population. To determine the prevalenceof BsmI and TaqI polymorphism in VDR gene of T2DM patients from North India.Methods: Blood samples were obtained from 100 well-characterized T2DM patients and 100 healthy controls. Genomic DNA was isolated from bloodsamples and using polymerase chain reaction/restriction fragment length polymorphism based method, the presence of these polymorphisms wasinvestigated in these samples. The data were statistically analyzed using SPSS 21.0 software.Results: For TaqI polymorphism, both the wild type (TT) and heterozygous (TC) genotype showed a significant difference between patients andcontrols (p=0.023 and p<0.001, respectively). Whereas, the frequency of CC genotype was not significantly different among these groups (p=0.506).For BsmI polymorphism also, the frequency of wild type (GG) and heterozygous (GA) genotype was significantly different in patients and controls(p=0.027 and p=0.001), respectively. However, the frequency of AA genotype was not of statistical significance in patients (p=0.071).Conclusions: The mutant alleles of TaqI and BsmI polymorphisms are known to be associated with different metabolic diseases, including diabetestoo. In our study also, there is a significant difference between the frequency of wild type and heterozygous genotype for these polymorphisms. Thissuggests that BsmI and TaqI polymorphisms may be associated with T2DM patients.Keywords: Type 2 diabetes mellitus, Polymorphism, Vitamin D receptor, Patient, Control, Restriction fragment length polymorphism.
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Matsumoto, Y., A. Suzuki, N. Shibuya, R. Sadahiro, M. Kamata, K. Goto, and K. Otani. "Association study between glucocorticoid receptor polymorphisms and personality traits in healthy subjects." European Psychiatry 26, S2 (March 2011): 809. http://dx.doi.org/10.1016/s0924-9338(11)72514-7.
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AimsPrevious studies have shown that the function of hypothalamic-pituitary-adrenal (HPA) axis is involved in the characterization of personality traits. Glucocorticoid receptor (GR) is the most important regulator of the HPA axis negative feedback system, and several polymorphisms of the GR gene are associated with altered glucocorticoid sensitivity. In the present study, we examined the associations between the GR polymorphisms and personality traits in healthy subjects.MethodsSubjects were 880 Japanese healthy volunteers. Personality traits were assessed by the Temperament and Character Inventory (TCI). Two polymorphisms of the GR gene, i.e., G/C SNP in the intron 2 (BcII polymorphism, rs41423247) and A/G SNP in the exon 9β (9β polymorphism, rs6198), were detected by a real-time PCR and cycling probe technology for SNP typing.ResultsThe genotype distributions were G/G = 614, G/C = 240, and C/C = 26 for the BcII polymorphism, and A/A = 879 and A/G = 1 for the 9β polymorphism, respectively. There were no significant associations between the BcII genotype groups in any TCI dimension score.ConclusionThe present study suggests that these two GR polymorphisms (BcII and 9β polymorphism) are not involved in the characterization of personality traits in healthy subjects.
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Albarawi, Dilan J., Amer A. Balatay, and Nasir Al-Allawi. "HBG2 -158 (C>T) polymorphism and its contribution to fetal hemoglobin variability in Iraqi Kurds with beta-thalassemia minor." Journal of Laboratory Physicians 10, no. 04 (October 2018): 370–73. http://dx.doi.org/10.4103/jlp.jlp_22_18.
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ABSTRACT PURPOSE: Hemoglobin (Hb) F% is increased in up to half of beta-thalassemia (β-thal) carriers. Several polymorphisms have been linked to such variability in different populations, including HBG2 - 158(C>T) (Xmn I polymorphism) on chromosome 11. To determine the role of this polymorphism in such variability among Iraqi Kurds, the current study was initiated. MATERIALS AND METHODS: A total of 102 consecutive patients diagnosed as β-thal minor were enrolled. The enrollees had their diagnosis based on peripheral blood counts and high-performance liquid chromatography to determine HbA2 and HbF. All enrollees had their DNA extracted by phenol-chloroform method and Xmn I polymorphism detected by restriction fragment length polymorphism-polymerase chain reaction. RESULTS: The mean age (standard deviation [SD]) of the 102 enrollees was 25.4 (14.0) years, and the enrollees included 48 males and 54 females. Xmn I polymorphism was identified in heterozygous state in 46 (45.1%) patients and in homozygous state in one patient (0.98%). Thus, the minor allele frequency of this polymorphism was 0.235 in the studied group. There were no significant differences in red cell indices and HbA2% in carriers of the minor allele compared to noncarriers, while HbF% and absolute HbF concentrations were significantly higher in the former subgroup (P = 0.032 and 0.014, respectively). This polymorphism's contribution to HbF variability was found to be 5.8% in the studied sample. Furthermore, those with HbF ≥2% were 3.2 folds more likely to carry the minor allele. CONCLUSIONS: Xmn I polymorphism is frequently encountered in Iraqi Kurds with β-thal minor, and it is significantly associated with higher fetal hemoglobin in these patients.
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Moura, Katia Franco, Mauro Haidar, Claudio Bonduki, Paulo Cezar Feldner Junior, Ismael Silva, Jose Maria Soares Junior, and Manoel Joao Girao. "Frequencies of interleukin-6, GST and progesterone receptor gene polymorphisms in postmenopausal women with low bone mineral density." Sao Paulo Medical Journal 132, no. 1 (2014): 36–40. http://dx.doi.org/10.1590/1516-3180.2014.1321566.
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CONTEXT AND OBJECTIVE: Osteoporosis is a skeletal disorder characterized by low bone mineral density (BMD). Studies have shown that some of the genetic components relating to lower BMD may be detected by polymorphisms. Our aim was to evaluate the frequencies of interleukin-6, GST and progesterone receptor gene polymorphisms in postmenopausal women with low BMD. DESIGN AND SETTING: Cross-sectional study, conducted in a public university in São Paulo, Brazil. METHODS : We evaluated interleukin-6 (IL-6), progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) polymorphisms in 110 postmenopausal women with no previous use of hormone therapy. Tests were performed using DNA-PCR, from oral scrapings. We used Student's t-test and a logistic regression model for statistical analysis. RESULTS : Regarding IL-6 polymorphism, 58.2% of the patients were homozygotes (GG) and 41.8% had allele C (heterozygote or mutant homozygote + GC or CC). PROGINS genotype polymorphism was absent in 79% (wild homozygote or P1/P1) and present in 20.9% (heterozygote or P1/P2). Regarding GSTM1 polymorphism, the allele (1/1) was present in 72.7% of the patients and was absent in 27.3%. We found that IL-6 polymorphism had statistically significant correlations with the L2-L4 T-score (P = 0.032) and with BMD (P = 0.005). Women with IL-6 polymorphism were 2.3 times more likely to have a L2-L4 T-score of less than -1, compared with those not presenting this polymorphism. CONCLUSION: IL-6 gene polymorphism was correlated with low BMD, whereas the PROGINS and GSTM1 polymorphisms did not show any correlation.
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Kumagai, Hiroshi, Eri Miyamoto-Mikami, Mizuki Takaragawa, Kiyonori Kuriki, Chiho Goto, Kiyoshi Shibata, Norihiro Yamada, et al. "Genetic polymorphisms in CYP19A1 and ESR1 are associated with serum CK activity after prolonged running in men." Journal of Applied Physiology 132, no. 4 (April 1, 2022): 966–73. http://dx.doi.org/10.1152/japplphysiol.00374.2021.
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Men with the TT genotype of the CYP19A1 polymorphism exhibited higher circulating estradiol levels than the TC + CC genotype. The TT genotype in the CYP19A1 polymorphism and the C allele of the ESR1 polymorphism, an allele increasing ESR1 expression, were associated with low serum CK activity after the ultramarathon. A combination of these polymorphisms was correlated with changes in the serum CK activity. Therefore, estrogen-related genetic polymorphisms partially predict exercise-induced muscle damage, that is, skeletal muscle membrane disruption.
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Guzmán-Ornelas, Milton-Omar, Marcelo Heron Petri, Mónica Vázquez-Del Mercado, Efraín Chavarría-Ávila, Fernanda-Isadora Corona-Meraz, Sandra-Luz Ruíz-Quezada, Perla-Monserrat Madrigal-Ruíz, Jorge Castro-Albarrán, Flavio Sandoval-García, and Rosa-Elena Navarro-Hernández. "CCL2 Serum Levels and Adiposity Are Associated with the Polymorphic Phenotypes -2518A on CCL2 and 64ILE on CCR2 in a Mexican Population with Insulin Resistance." Journal of Diabetes Research 2016 (2016): 1–11. http://dx.doi.org/10.1155/2016/5675739.
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Genetic susceptibility has been described in insulin resistance (IR). Chemokine (C-C motif) ligand-2 (CCL2) is overexpressed in white adipose tissue and is the ligand of C-C motif receptor-2 (CCR2). TheCCL2G-2518A polymorphism is known to regulate gene expression, whereas the physiological effects of theCCR2Val64Ile polymorphism are unknown. The aim of the study is to investigate the relationship between these polymorphisms with soluble CCL2 levels (sCCL2), metabolic markers, and adiposity. In a cross-sectional study we included 380 Mexican-Mestizo individuals, classified with IR according to Stern criteria. Polymorphism was identified using PCR-RFLP/sequence-specific primers. Anthropometrics and metabolic markers were measured by routine methods and adipokines and sCCL2 by ELISA. The CCL2 polymorphism was associated with IR (polymorphicA+phenotype frequencies were 70.9%, 82.6%, in individuals with and without IR, resp.). Phenotype carriers CCL2 (A+) displayed lower body mass and fat indexes, insulin and HOMA-IR, and higher adiponectin levels. Individuals with IR presented higher sCCL2 compared to individuals without IR and was associated with CCR2 (Ile+) phenotype. The double-polymorphic phenotype carriers (A+/Ile+) exhibited higher sCCL2 than double-wild-type phenotype carriers (A−/Ile−). The present findings suggest that sCCL2 production possibly will be associated with the adiposity and polymorphic phenotypes ofCCL2andCCR2, in Mexican-Mestizos with IR.
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Patel, Shruti R., Kinjal D. Patel, Jayendra B. Patel, Prabhudas S. Patel, and Franky Dhaval Shah. "Association of vitamin D receptor gene polymorphisms with breast cancer risk." Journal of Cancer Research and Therapeutics 19, Suppl 2 (2023): S677—S681. http://dx.doi.org/10.4103/jcrt.jcrt_60_22.
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ABSTRACTS Background: Recent literature suggests that vitamin D signaling has a protective effect against breast cancer risk. Thus, the aim of the present study was to find the association of vitamin D receptor (VDR) gene polymorphisms with breast cancer risk. Materials and Methods: Fok1, Bsm1, Apa1, and Taq1 polymorphisms were performed by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) method, and Poly A polymorphism was carried out using PCR-SSCP in 140 breast cancer patients and 155 controls. Results: Odds ratio was significantly higher in both homozygous variant genotypes (LL) of Poly A polymorphism of VDR (odds ratio [OR] = 5.42, 95% confidence interval [CI] = 1.19–23.31, P = 0.02) and heterozygous variant genotypes (SL) of Poly A polymorphism of VDR (OR = 3.89, 95% CI = 1.10–13.7, P = 0.03). Fok1, Bsm1, Apa1, and Taq1 polymorphisms of VDR gene were not significantly associated with breast cancer risk. Conclusion: Poly A polymorphism at the 3′ untranslated region (UTR) of VDR gene was significantly associated with breast cancer risk in West Indian population.
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Yan, Xiaofei, Yuzhen Wei, Dan Wang, Jiangtao Zhao, Kui Zhu, Yuan Liu, and Hailong Tao. "Four common vitamin D receptor polymorphisms and coronary artery disease susceptibility: A trial sequential analysis." PLOS ONE 17, no. 10 (October 3, 2022): e0275368. http://dx.doi.org/10.1371/journal.pone.0275368.
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Background Studies on the susceptibility of vitamin D receptor (VDR) polymorphisms to coronary artery disease (CAD) reached controversial results. We performed this study for a more accurate evaluation between the VDR polymorphisms and CAD susceptibility. Methods PubMed, Embase, CNKI, Wan Fang, and VIP databases were searched. The odds ratios (ORs) and 95% confidence intervals (95% CIs) were used to evaluate the associations. Trial sequential analysis (TSA) was introduced to estimate the positive associations. The potential functions of the VDR polymorphisms were analyzed based on the SNPinfo and ENSEMBL databases. Results Thirteen studies were finally included. In the overall analysis, increased CAD risks were observed in the VDR rs1544410 polymorphism and verified by the TSA; for the rs2228570 and rs731236 polymorphisms, significant associations with high heterogeneity were detected; decreased risk was remarkably observed for the rs7975232 polymorphism. In the subgroup analysis, wide associations with reduced heterogeneity were observed in the rs2228570, rs1544410, and rs731236 polymorphisms. The RNAfold analysis indicated the mutant G allele of the rs1544410 polymorphism was easier to disperse from the DNA double helix structure and may have a potential crucial role in the VDR transcription process. Conclusions Our analysis supports the role of the rs1544410 polymorphism in the VDR gene as a risk factor for CAD. The VDR rs2228570 and rs731236 polymorphisms were associated with increased CAD risks in the White population. Restrict decreased CAD risk was firstly discovered in the rs7975232 polymorphism. Limitations Firstly, the language was restricted to English and Chinese, which will cause the limited number of studies included; secondly, other unknown polymorphisms in VDR polymorphisms could also be associated the CAD susceptibility, and more case-control studies with comprehensive clinical outcomes and GWAS studies were required; thirdly, the rs1544410, rs7975232 and rs731236 polymorphism are in strong LD, haploid factors with CAD risk need to be considered; fourthly, the mechanisms of the VDR polymorphism on the VDR gene or RNA or protein were not discussed enough, further mechanistic studies are required; at last, genetic factor was the one side for CAD susceptibility, the interaction between environmental risk factors should be considered.
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Cordeiro, Quirino, Ricardo Noguti, Cássio M. C. Bottino, and Homero Vallada. "Study of association between genetic polymorphisms of phospholipase A2 enzymes and Alzheimer's disease." Arquivos de Neuro-Psiquiatria 68, no. 2 (April 2010): 189–93. http://dx.doi.org/10.1590/s0004-282x2010000200007.
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Several genes have been related to late-onset Alzheimer's disease (LOAD). Phospholipases A2 (PLA2) influence the processing and secretion of the amyloid precursor protein, which gives rise to the beta-amyloid peptide, the major component of the amyloid plaque in AD. Hence, in the present study, polymorphisms of three genes encoding PLA2 enzymes group (cytosolic PLA2: BanI cPLA2 polymorphism; calcium-independent PLA2: AvrII iPLA2 polymorphism; PAFAH: Val279Phe PAFAH polymorphism) were analysed in a case-control sample using 58 patients with LOAD and 107 matched healthy controls. There was a genotypic association between the BanI cPLA2 polymorphism and LOAD (χ2=6.25, 2df, p=0.04), however there was no allelic association. There were no associations between AvrII iPLA2 and Val279Phe PAFAH polymorphisms and LOAD. These data suggest that the BanI cPLA2 polymorphism may play a role in the susceptibility for LOAD in our Brazilian sample.
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Trush, E. A., A. E. Karchevskaya, R. V. Maslennikov, E. A. Poluektova, O. S. Shifrin, and V. T. Ivashkin. "Single Nucleotide Polymorphisms, Associated with Increased Risk of Irritable Bowel Syndrome with Predominant Constipation: A Meta Analysis." Russian Journal of Gastroenterology, Hepatology, Coloproctology 34, no. 3 (August 12, 2024): 62–77. http://dx.doi.org/10.22416/1382-4376-2024-34-3-62-77.
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Introduction. Genetic predisposition in combination with environmental factors and the patient’s psychological and emotional state play a key role in the development of irritable bowel syndrome (IBS). Studies of association between genetic polymorphisms and IBS can help in understanding the key pathophysiological mechanisms. To date, 11 meta-analyses on this issue have been published, however, none of them comprehensively summarize the data on the prevalence of genetic polymorphisms in IBS with predominant constipation (IBS-C).Aim: to summarize the published data on the impact of genetic polymorphisms on the risk of IBS-C.Materials and methods. A literature search was performed in the PubMed and Scopus databases. Identified studies were used for a meta-analysis according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. Publications investigating genetic polymorphisms in patients with IBS-C were included in this analysis.Results. A total of 34 studies met the inclusion criteria. The collected data were sufficient to conduct a meta-analysis on polymorphisms of three of the listed genes: SLC6A4 (10 articles), GNB3 (5 articles), ADRA2A (4 articles). No significant association was found between the SLC6A4 (5-HTTLPR) polymorphism, GNB3 c.825C > T (rs5443) polymorphism and either IBS or IBS-C. It was found that ADRA2A 1291C>G polymorphism was significantly associated with both IBS and IBS-C.Conclusions. Our meta-analysis revealed that ADRA2A 1291C>G polymorphism was significantly associated with both IBS and IBS-C in the mixed population. Neither homozygous nor heterozygous variants of the SLC6A4 (5-HTTLPR) polymorphism and GNB3 C825T polymorphism were associated with either IBS-C or IBS as a whole.
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Aidinidou, L., A. Chatzikyriakidou, A. Giannopoulos, V. Karpa, I. Tzimou, E. Aidinidou, and L. Fidani. "Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients." Balkan Journal of Medical Genetics 24, no. 1 (June 1, 2021): 15–20. http://dx.doi.org/10.2478/bjmg-2021-0014.
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Abstract Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and young adults. Several gene variants are involved in diverse mechanisms of cardiac and vessel development and could thus be considered candidate mutated genes for a congenital heart defect or a specific variant could predispose a person to CHD. In the present study, variants in four such genes are investigated for the first time in a group of young Greek CHD patients: the NFKB1 gene polymorphism (–94ins/ delATTG), rs28362491, NKX2-5 gene polymorphism rs2277923, GATA4 gene polymorphism rs11785481 and RANKL gene polymorphism rs4531631. A total of 43 CHD patients and 100 healthy adults were included in the study. The polymerase chain reaction-restriction fragment length polymorphism (PRC-RFLP) method was used to genotype the aforementioned polymorphisms of NFKB1, NKX2-5, GATA4 and RANKL. The association analysis identified that there was a protective association between CHD and the A allele of rs2277923 polymorphism (p = 0.004). The D allele of the rs28362491 polymorphism is also a likely risk factor for causing CHD (p = 0.006). The differences of the rs4531631 and rs11785481 variant contribution had no statistical significance between the groups (p >0.05). In conclusion, our results revealed that the rs28362491 and rs2277923 gene polymorphisms, but not the rs4531631 and rs11785481 polymorphisms, may contribute to CHD risk in a cohort of Greek CHD patients.
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Zhang, Guoqiang, and Maohe Jin. "Genetic associations between CYP24A1 polymorphisms and predisposition of cancer: A meta-analysis." International Journal of Biological Markers 35, no. 4 (October 14, 2020): 71–79. http://dx.doi.org/10.1177/1724600820944408.
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Background: CYP24A1 polymorphisms may affect predisposition of cancer, but the results of published studies remain inconclusive. Therefore, the authors conducted this meta-analysis to more robustly assess relationships between CYP24A1 polymorphisms and the predisposition of cancer by pooling the findings of published studies. Materials and methods: A comprehensive literature search of PubMed, Embase, Web of Science, Wanfang, and CNKI was endorsed by the authors to identify eligible studies; 17 studies were finally found to be eligible for pooled meta-analysis. Results: The pooled meta-analysis results showed that genotypic frequencies of the rs4809960 polymorphism among cancerous patients and controls of Caucasian ethnicity differed significantly, and genotypic frequencies of the rs6022999 polymorphism among cancerous patients and controls of Asian ethnicity also differed significantly. Moreover, we found that genotypic frequencies of the rs2585428 polymorphism among patients with prostate cancer and controls differed significantly, and genotypic frequencies of the rs6068816 polymorphism among patients with prostate cancer/breast cancer and controls also differed significantly. Conclusions: This meta-analysis suggests that the rs4809960 polymorphism may affect the predisposition of cancer in Caucasians, and the rs6022999 polymorphism may affect the predisposition of cancer in Asians. Moreover, the rs2585428 polymorphism may affect the predisposition of prostate cancer, while the rs6068816 polymorphism may affect the predisposition of prostate cancer and breast cancer.
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Lukitasari, Mifetika, Ahmad Hamim Sadewa, and Mohammad Saifur Rohman. "ABO Gene Polymorphism and Thrombomodulin −33G>A Polymorphism Were Not Risk Factors for Myocardial Infarction in Javanese Men." International Journal of Vascular Medicine 2017 (2017): 1–5. http://dx.doi.org/10.1155/2017/2943467.
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Genetic factors contribute to about a half of coronary artery diseases. During the last several decades, some studies suggested that non-O blood group and thrombomodulin polymorphism −33G>A are the risk factors of coronary artery disease especially in Asia. There was no prior study in Indonesia regarding this issue. Hence, this study was designed to investigate the correlation of ABO polymorphism and thrombomodulin polymorphism −33G>A with the incidence of acute myocardial infarction (AMI). A total of 192 subjects were enrolled in this case control study. AMI patients were diagnosed based on World Health Organization criteria. Healthy patients were subjects with AMI risk factor without any sign and symptoms of AMI. Patients with diabetes mellitus, cancer, and arrhythmia were excluded from this study. Genotyping for both polymorphisms was performed by PCR RFLP methods. The result of this study suggested that ABO polymorphism and thrombomodulin polymorphism −33G>A were not risk factors of AMI,p=0.727andp=0.699, respectively. Furthermore, the analysis to identify the synergy of these polymorphisms failed to prove their correlation with AMI(p=0.118). Conclusively, this study showed that ABO polymorphism and thrombomodulin polymorphism −33G>A were not risk factors of AMI.
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Traspov, AA, MM Minashkin, SV Poyarkov, AG Komarov, IA Shtinova, GI Speshilov, IA Karbyshev, NV Pozdniakova, and MA Godkov. "The rs17713054 and rs1800629 polymorphisms of genes LZTFL1 and TNF are associated with COVID-19 severity." Bulletin of Russian State Medical University, no. 2022(6) (December 2022): 92–97. http://dx.doi.org/10.24075/brsmu.2022.065.
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Both genetic and non-genetic factors are responsible for high interindividual variability in response to SARS-CoV-2. Despite the fact that multiple genetic polymorphisms have been identified as risk factors of severe COVID-19, such polymorphisms are still insufficiently studied in the Russian population. The study was aimed to identify genetic determinants associated with severe COVID-19 in the sample of patients from the Russian Federation. The correlation of the rs17713054 polymorphism in gene LZTFL1 and rs1800629 polymorphism in gene TNF (tumor necrosis factor) with the COVID-19 severity was assessed. DNA samples obtained from 713 patients (324 males and 389 females) aged 18‒95 with COVID-19 of varying severity were analyzed. The rs1800629 polymorphism of gene TNF (OR = 1.5; p = 0.02) and rs17713054 polymorphism of gene LZTFL1 (OR = 1.60; p = 0.0043) were identified as risk factors of severe disease. The TNF polymorphism rs1800629 and LZTFL1 polymorphism rs17713054 could be considered as potential predictive biomarkers. The rs17713054 G > A polymorphism was strongly associated with severe disease. In the future the findings may provide the basis for the development of test-systems for prediction of the risk of severe viral respiratory diseases.
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Shu, Yi, Youping Chen, Haizhao Luo, Huixian Li, Jielong Tang, Yunyi Liang, and Weiqiang Liang. "The Roles of IL-10 Gene Polymorphisms in Diabetes Mellitus and Their Associated Complications: A Meta-Analysis." Hormone and Metabolic Research 50, no. 11 (September 17, 2018): 811–15. http://dx.doi.org/10.1055/a-0651-5051.
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AbstractThe roles of interleukin-10 (IL-10) gene polymorphisms in diabetes mellitus (DM) have been intensively analyzed earlier, but the results of these studies were conflicting. Hence, we performed this study to better assess the relationship between IL-10 genetic variations and DM. Eligible studies were searched in PubMed, Medline, Embase, and Web of Science. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess correlations between IL-10 polymorphisms and DM. A total of 32 studies were finally included in our analyses. Significant associations with the risk of DM were detected for the rs1800871, rs1800872, and rs1800896 polymorphisms. As for complications in DM, significant association with the risk of diabetic nephropathy (DN) was detected for the rs1800871 polymorphism. In addition, we also found that the rs1800896 polymorphism was significantly associated with the risk of diabetic retinopathy (DR). Further stratified analyses on the basis of type of disease demonstrated that the positive results were predominantly driven by the T2DM subgroup. When we stratified data based on ethnicity of participants, we found that the rs1800871 polymorphism was significantly correlated with DM in Caucasians, the rs1800872 polymorphism was significantly correlated with DM in Asians, and the rs1800896 polymorphism was significantly correlated with DM in both Caucasians and Asians. Our findings indicate that rs1800871, rs1800872, and rs1800896 polymorphisms may serve as genetic biomarkers of DM. Moreover, the rs1800871 and rs1800896 polymorphisms may also contribute to the development of complications in DM.
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Kim, Yeo-Kyeoung, Hee-Je Kim, Woo-Sung Min, Jong Ho Won, Deog-Yeon Jo, Moo-Rim Park, Hee-Nam Kim, et al. "Prognostic Significance of NQO1 Polymorphism and GST-M1 Deletion in De Novo Acute Myeloid Leukemia." Blood 112, no. 11 (November 16, 2008): 4846. http://dx.doi.org/10.1182/blood.v112.11.4846.4846.
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Abstract Background: Although the most powerful prognostic factor of acute myeloid leukemia (AML) patients is the karyotype of the leukemic blast, data have not been obtained almost entirely in patients with heterogeneous cytogenetics. Further, some patients with favorable cytogenetics may show the poor treatment outcomes. Previous reports suggested that the single nucleotide polymorphisms of genes coding drug detoxification enzymes such as cytochrome P450 family or DNA repair system may influence the treatment outcomes in the patients with AML. We evaluated the role of polymorphisms in XRCC1, XRCC4, CYP1A1, GST-T1, GST-M1, NOQ1, and NAT2*6A in predicting therapeutic outcomes of adults with AML. Methods: XRCC1 (rs25487), XRCC4 (rs1056503), NQO1 (rs1800566), CYP-4501A1*2B (rs1048943), NAT2*6A (rs1799930) gene polymorphisms and deletion of GST-M1/GST-T1 were evaluated in 460 bone marrow (BM) samples obtained at initial diagnosis from de novo AML patients. Genotyping method is pyrosequencing using genomic DNA from BM samples. Homozygous deletions of GST-M1 and GST-T1 genes were detected with a multiplex PCR technique. All patients except APL (acute promyelocytic leukemia) received one or two rounds of intensive induction chemotherapy consisting of 3 days of idarubicin and 7 days of cytarabine. APL patients treated with AIDA regimen consisting of 45 days of ATRA (all-trans retinoic acid) and 3 days of idarubicin. Results: Of total 460 patients, ninety-nine patients (21.5%) were APL. Seventy-one (15.4%) were AML with t(8;21), twenty-three (5%) were AML with inv(16), and 179 patients (38.9%) showed normal cytogenetics. The median age of patients was 44 years (range, 14–75 years). In all cytogenetic risk group, the patients carrying homozygous NQO1 gene polymorphism (TT) showed significantly lower rate of complete remission (CR) than in those with negative or heterogyzous polymorphisms (TT: 72.7% vs. CC/CT: 85.9%, p=0.03). There was no significant difference in relapse rate, leukemia-free survival (LFS) and overall survival between homo- and heterozygote groups in these polymorphsims. In subgroup analysis, APL patients carrying TT genotype in NQO1 also showed lower rate of CR (TT: 77.8% vs. CC/CT: 95.4%, p=0.04). In AML patients except APL, NQO1 homozygous polymorphsim (TT) was also associated with lower CR rate (TT: 69.6% vs. CC/CT: 84.2%, p=0.005). In normal cytogenetics, the patients with del GST-M1 showed shorter LFS compared with those carrying GST-M1 (18.0 ± 5.7ms. vs. 34.6 ± NA. p=0.04). Conclusions: This study revealed an association between NQO1 polymorphism and GST-M1 deletion and the treatment outcomes for AML patients. Further study and larger sample size are needed to reach the definite conclusion on these associations. However, a stratified treatment plan in remission induction chemotherapy such as augmentation or addition of other chemotherapeutic agents may be warranted for AML patients harvoring homozygous NQO1 polymorphism (TT) or del GST-M1.
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Sorokina, E. Yu, N. N. Denisova, and E. E. Keshabyants. "Frequency of occurrence of genetic polymorphisms associated with sports success in elite athletes in team sports." Sports medicine: research and practice 11, no. 1 (June 28, 2021): 5–10. http://dx.doi.org/10.47529/2223-2524.2021.1.11.
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Objective: to evaluate the frequency of occurrence of polymorphisms rs1815739 (ACTN3 gene), rs2016520 (PPARD gene), rs1042713 (ADRB2 gene), rs1799945 (HFE gene) in athletes of highperformance sports.Materials and methods: genotyping was performed using allelespecific amplification with realtime detection of the results and using TaqMan probes.Results: a higher frequency of alleles associated with endurance was found: the t allele of the rs1815739 polymorphism (ACTN3 gene), the g allele of the rs2016520 polymorphism (PPARD gene), the g allele of the rs1042713 polymorphism (ADRB2 gene), and the g allele of the rs1799945 polymorphism (HFE gene) in athletes of game sports.Conclusion: the results of genotyping of polymorphisms associated with endurance in the examined athletes showed a higher frequency of occurrence than in the population as a whole.
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Vidigal, Verônica Marques, Tiago Donizetti Silva, Juliana de Oliveira, Célia Aparecida Marques Pimenta, Aledson Vitor Felipe, and Nora Manoukian Forones. "Genetic Polymorphisms of Vitamin D Receptor (VDR), CYP27B1 and CYP24A1 Genes and the Risk of Colorectal Cancer." International Journal of Biological Markers 32, no. 2 (April 2017): 224–30. http://dx.doi.org/10.5301/jbm.5000248.
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Introduction Vitamin D receptor (VDR) and proteins encoded by the genes CYP27B2 and CYP24A1 involved in the production and inactivation of vitamin D can influence vitamin D and the susceptibility to colorectal cancer (CRC). The objective of this study was to investigate the relationship between the risk of CRC and polymorphisms in VDR, CYP27B1 and CYP24A1, lifestyle and dietary habits. Methods The study included 152 patients with CRC and 321 controls. All participants answered a questionnaire on their dietary habits, alcohol consumption and smoking habits. DNA was extracted from peripheral blood. Polymorphisms of BsmI and ApaI were identified by performing PCR-RFLP. Identification of CYP24A1 (rs6013897, rs158552 and rs17217119) and CYP27B1 (rs10877012) polymorphisms was performed by gene sequencing. Results Smoking, alcohol use, and low or no consumption of fruit, cereals and dairy products were associated with an increased risk of CRC. A heterozygous genotype Aa or an association genotype aa + Aa of the VDR ApaI polymorphism increased the risk of CRC. The VDR BsmI polymorphism was not significantly associated with the risk of CRC. Multivariate analysis showed that heterozygous and association genotype AT + AA of the rs6013897 polymorphism, genotype CT of the rs158552 polymorphism, association genotype CT + CC and genotypes AA and GG of the rs17217119 polymorphism of CYP24A1, and heterozygous genotype GT and association genotype GT + TT of the rs10877012 polymorphism in CYP27B1 were associated with a higher risk of CRC. Conclusions Dietary habits, lifestyle, and polymorphisms in VDR (ApaI), CYP24A1 (rs6013897, rs158552, rs17217119) and CYP27B1 (rs10877012) were associated with a higher risk of CRC.
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Tuna, A., G. Ozturk, TB Gerceker, E. Karaca, H. Onay, SM Guvenc, and O. Cogulu. "Superoxide dismutase 1 and 2 gene polymorphism in Turkish vitiligo patients." Balkan Journal of Medical Genetics 20, no. 2 (December 29, 2017): 67–73. http://dx.doi.org/10.1515/bjmg-2017-0033.
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Abstract Vitiligo is an acquired disease of unknown etiology. Several theories have been proposed to understand the pathogenesis. The role of oxidative stress has been getting more important in recent years. One of the primary antioxidant enzymes in vitiligo is the superoxide dismutase (SOD). The aim of this study is to investigate the polymorphisms of the SOD1 and SOD2 in Turkish vitiligo patients. One hundred one vitiligo patients and 99 healthy controls without family history of vitiligo were included into the study. The SOD1 35 A/C and SOD2 A16V (C/T) polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphim (PCR-RFLP). Vitiligo patients and control group of SOD1 35 A/C and SOD2 A16V (C/T) polymorphism allele frequencies were compared by using χ2 tests. The distribution of the SOD1 35 AA and AC genotypes were similar in vitiligo patients and control group. When the patient and the control groups were compared for the SOD2 Ala9Val (C/T) polymorphism, a significant difference was determined for the distribution of the genotypes [p = 0.047, odds ratio (OR) = 2.075, 95% confidence interval (95% CI) = 1.008-4.272]. The relative risk for development of vitiligo was found as a 2-fold increase in the TT genotype. The increase of TT homozygosity in the vitiligo cases creates the problem on the transfer of the enzyme to the mitochondria and thus, the SODs antioxidant effect may decrease in vitiligo but the polymorphism was not determined in all patients, so this study needs to be substantiated by other studies containing a higher number of patients.
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KIM, HYOUN-AH, HYE-YOUNG CHUN, SEUNG-HYUN KIM, HAE-SIM PARK, and CHANG-HEE SUH. "C-Reactive Protein Gene Polymorphisms in Disease Susceptibility and Clinical Manifestations of Korean Systemic Lupus Erythematosus." Journal of Rheumatology 36, no. 10 (September 15, 2009): 2238–43. http://dx.doi.org/10.3899/jrheum.090243.
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Objective.C-reactive protein (CRP) is a sensitive marker of inflammation. It is hypothesized that polymorphism of CRP gene contributes to susceptibility to systemic lupus erythematosus (SLE). We tested this hypothesis by identifying CRP gene polymorphisms in Korean patients with SLE.Methods.Approximately 1.5 kb of CRP promoter region was screened for single nucleotide polymorphism (SNP) using direct sequencing and 3 SNP in CRP exons by restriction fragment length polymorphism. The basal levels of CRP were measured by immunoturbidimetry. The effect of −390 C>A or T polymorphism on the promoter activity was analyzed by luciferase reporter assay in Hep3B cells.Results.Allele frequency at polymorphisms within CRP promoter and exon in our Korean patients with SLE differed from that of Caucasians. The A allele was a major allele at position 2043 in Korean SLE patients, whereas G is a major allele in Caucasian SLE. Our SLE patients had minor allele in the −390 polymorphism more frequently versus controls (p = 0.033). CRP 1185 polymorphism was associated with thrombocytopenia (p = 0.043). The basal levels of CRP were significantly higher in individuals who had minor allele in −390 and 2043 polymorphisms (p = 0.03. p = 0.024, respectively). Promoter-reporter construct carrying the −390 A or T allele displayed significantly higher promoter activity than that with the −390 C allele (p < 0.001).Conclusion.CRP gene −390 polymorphism plays a role in disease susceptibility of SLE through regulation of serum CRP level. Our results suggest that elevated basal CRP level may be important in the pathogenesis of SLE, even though CRP responsiveness to noninfectious inflammation of SLE is decreased.
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Stoltz, Donald B., and Deming Xu. "Polymorphism in polydnavirus genomes." Canadian Journal of Microbiology 36, no. 8 (August 1, 1990): 538–43. http://dx.doi.org/10.1139/m90-094.
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Polymorphisms were readily detected in polydnavirus DNA extracted from several different species belonging to two different families of parasitic hymenoptera. Heterogeneity was observed as differences in electrophoretic profiles of genome segments, differences in the number of cross-hybridizing genome segments, and restriction fragment length polymorphisms; polymorphism was also detected at the level of an individual genome segment. Some implications drawn from these observations are discussed. Key words: polydnavirus, multipartite genomes, DNA polymorphisms.
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Özturan Şirin, Ayçıl, and Yasemin Akdevelioğlu. "The relationship of energy-restricted diet with FTO and MC4R gene polymorphism in patients with polycystic ovary syndrome." Cukurova Medical Journal 49, no. 3 (June 28, 2024): 580–91. http://dx.doi.org/10.17826/cumj.1447513.
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Purpose: The aim of this study was to determine whether the effects of an energy-restricted diet on overweight/obese patients with PCOS on body composition and biochemical parameters in groups with MC4R rs17782313 and FTO rs9939609 polymorphisms differ from those without gene polymorphism. Materials and Methods: A total of 48 women aged 18-45 were accepted. An 8-week diet intervention was applied, and anthropometric measurements, biochemical parameters and food consumption of the patients were determined before and after the intervention. In addition, FTO gene rs9939609 and MC4R gene rs17782313 polymorphisms were determined. Results: The incidence of FTO and MC4R gene polymorphism was 72.9% and 68.8% respectively. Change in waist/height ratio was found to be higher in the group without FTO gene polymorphism (-0.03±0.015 cm) compared to the group with gene polymorphism (-0.02 ±0.016 cm). There was no statistically significant difference between the groups with and without MC4R gene polymorphism in terms of change (Δ) in anthropometric measurements. Although not statistically significant, there was a greater decrease in body weight (kg) and BMI (kg/m2) in the group without MC4R gene polymorphism compared to the group with it (without polymorphism group -2.2±1.83 kg; -0.9±0.69 kg/m2). There was no statistically significant difference between the groups with and without gene polymorphism in terms of biochemical parameters. Conclusion: We found that the energy-restricted weight loss diet did not detect a statistically significant change in biochemical parameters in the FTO and MC4R gene polymorphism groups, but the presence of gene polymorphism made it difficult to improve in anthropometric measurements.
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Čítek, J., L. Hanusová, M. Brzáková, L. Večerek, L. Panicke, and L. Lískovcová. "Associations between gene polymorphisms, breeding values, and glucose tolerance test parameters in German Holstein sires." Czech Journal of Animal Science 63, No. 5 (April 26, 2018): 167–73. http://dx.doi.org/10.17221/8/2017-cjas.
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The association between several gene polymorphisms, the estimated breeding values for milk performance traits, and glucose metabolism measured by the glucose tolerance test (GTT) in German Holstein sires were evaluated. Polymorphisms in DGAT1, GH1, GHR, FASN, and OLR1 genes were not associated with the GTT. A significant relationship was obtained for the DGAT1 AA/GC polymorphism and estimated breeding values for milk performance (milk yield, fat and protein yield, fat and protein percentage). The polymorphism in GHR was significantly associated with estimated breeding values for fat yield, and the polymorphism in OLR1 with estimated breeding value for protein yield. It shows the importance of the polymorphisms and makes their use in the breeding possible. GTT may be helpful in metabolic analyses, but the gene polymorphisms assessed in our study were not associated with GTT traits and further studies should examine other gene polymorphisms to support the role of GTT for potential breeding purposes.
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Delluc, Aurélien, Lénaïck Gourhant, Karine Lacut, Bernard Mercier, Marie-Pierre Audrezet, Emmanuel Nowak, Emmanuel Oger, et al. "Association of common genetic variations and idiopathic venous thromboembolism." Thrombosis and Haemostasis 103, no. 06 (2010): 1161–69. http://dx.doi.org/10.1160/th09-07-0430.
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SummaryVenous thromboembolism (VTE) is a multifactorial disease, caused by interacting environmental and genetic risk factors. Gene-centric geno-typing strategy is one of the approaches to explore unexplained associations between risk factors and VTE. It was the objective of this study to evaluate, using a gene-centric genotyping strategy, polymorphisms in genes involved in the following pathways: coagulation cascade process, renin-angiotensin or adrenergic systems, lipid metabolism, platelet aggregation. Allele frequency was compared between 677 cases with idiopathic VTE and their matched controls. After Bonferroni adjustment, four single nucleotide polymorphisms (SNPs) were significantly associated with VTE: Factor XI rs925451 polymorphism, factor XI rs2289252 polymorphism, factor II rs1799963 (G20210A) polymorphism and factor V Leiden rs6025. An additive mode of inheritance fitted best both factor XI polymorphisms. In this hospital-based case-control study, two polymorphisms located on the factor XI gene were significantly associated with VTE. Other newly investigated polymorphisms with potentially false negatives may warrant further analyses.
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Atmoko, Widi, Putu Angga Risky Raharja, Ponco Birowo, Agus Rizal Ardy Hariandy Hamid, Akmal Taher, and Nur Rasyid. "Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis." PLOS ONE 16, no. 5 (May 6, 2021): e0251235. http://dx.doi.org/10.1371/journal.pone.0251235.
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Genetic polymorphisms have been suggested as risk factors affecting the occurrence and recurrence of kidney stones, although findings regarding the latter remain inconclusive. We performed this systematic review and meta-analysis to clarify the associations between genetic polymorphisms and recurrent kidney stones. PubMed, SCOPUS, EMBASE, and Cochrane Library databases were searched through May 28th, 2020 to identify eligible studies. The Quality in prognostic studies (QUIPS) tool was used to evaluate bias risk. Allelic frequencies and different inheritance models were assessed. All analyses were performed using Review manager 5.4. A total of 14 studies were included for meta-analysis, assessing urokinase (ApaL1) and vitamin D receptor (VDR) (ApaI, BsmI, FokI, and TaqI) gene polymorphisms. The ApaLI polymorphism demonstrated protective association in the recessive model [odds ratio (OR) 0.45, P < 0.01] albeit higher risk among Caucasians in the heterozygous model (OR 16.03, P < 0.01). The VDR-ApaI polymorphism showed protective association in the dominant model (OR 0.60, P < 0.01). Among Asians, the VDR-FokI polymorphism recessive model showed significant positive association (OR 1.70, P < 0.01) and the VDR-TaqI polymorphism heterozygous model exhibited protective association (OR 0.72, P < 0.01). The VDR-BsmI polymorphism was not significantly associated with recurrent kidney stones in any model. Urokinase-ApaLI (recessive model), VDR-ApaI (dominant model), and VDR-TaqI (heterozygous model) polymorphisms were associated with decreased recurrent kidney stone risk whereas urokinase-ApaLI (heterozygous model) and VDR-FokI polymorphisms were associated with increased risk among Caucasians and Asians, respectively. These findings will assist in identifying individuals at risk of kidney stone recurrence.
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Kaldygulova, Lyazzat, Sauran Yerdessov, Talshyn Ukybassova, Yevgeniy Kim, Dinmukhamed Ayaganov, and Andrey Gaiday. "Polymorphism of Folate Metabolism Genes among Ethnic Kazakh Women with Preeclampsia in Kazakhstan: A Descriptive Study." Biology 13, no. 9 (August 23, 2024): 648. http://dx.doi.org/10.3390/biology13090648.
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Introduction: Preeclampsia is a severe multifactorial complication of pregnancy. Studies found associations between folate metabolism genes’ polymorphisms and preeclampsia. However, investigations in this field are limited among Asian populations. Thus, the study’s aim was to evaluate the prevalence of methionine synthase (MTR), methionine synthase reductase (MTRR), and methylenetetrahydrofolate reductase (MTHFR) genes’ polymorphisms among ethnic Kazakh women with preeclampsia. Methods: This was a retrospective study involving 4246 patients’ data for the period of 2018–2022. Identification of MTR, MTRR, and MTHFR genes’ polymorphism was performed via PR-PCR. Peripheral blood samples were obtained for the analyses. In total, 4246 patients’ data of Kazakh ethnicity with preeclampsia at >20 weeks gestational age who had undergone an investigation to identify polymorphisms of the folate metabolism pathway genes for the period of 5 years were included in this study. Results: The most common and prevalent mutation was the MTRR A66G polymorphism: 24.5% of all tested patients with preeclampsia had the MTRR A66G polymorphism. It was highest among the 35–39 age group participants. The second most prevalent was the MTHFR C677T polymorphism: 9% of women with preeclampsia had the MTHFR C677T mutation. It was highest among women aged 30–34. There was a rare association of the MTR A2756G mutation with preeclampsia among the study participants. Conclusions: The identified levels of MTRR A66G and MTHFR C677T polymorphisms among the study participants suggest the importance of evaluating MTRR and MTHFR polymorphisms in women with preeclampsia. The role of the MTR A2756G polymorphism in the development of preeclampsia needs to be further investigated.
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Zihlif, Malek, Amer Imraish, Baeth Al-Rawashdeh, Aya Qteish, Raihan Husami, Rawand Husami, Farah Tahboub, Yazun Jarrar, and Su-Jun Lee. "The Association of IgE Levels with ADAM33 Genetic Polymorphisms among Asthmatic Patients." Journal of Personalized Medicine 11, no. 5 (April 22, 2021): 329. http://dx.doi.org/10.3390/jpm11050329.
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Total serum immunoglobulin E (IgE) is elevated in multiple allergic diseases and is considered a good predictor of atopy. Several studies have been performed on the association of IgE levels with the polymorphism of the ADAM33 gene in asthmatic patients. The aim of this study was to determine whether there is an association between IgE levels and the genetic polymorphisms of the ADAM33 gene (T1, T2, T + 1, V4, S1, S2, and Q-1) in both healthy and asthmatic patients among Jordanians. The clinical data were collected for this case–control study from 267 asthmatic patients and 225 control subjects. Seven genetic polymorphisms (T1, T2, T + 1, V4, S1, S2, and Q-1) of the gene ADAM33 were analyzed using the polymerase chain reaction/restriction fragment length polymorphism method. The minor alleles (G) of T1, (A) of T2, T + 1, and (G) of V4 polymorphisms were associated with a significant increase in total serum IgE levels in adults but not children. The V4 genetic polymorphism, however, showed a significant association with IgE levels in both adults and children. The S1 polymorphism was significantly associated with the codominant module only in the adults. The S2 polymorphism showed a significant association (p-value < 0.05) in both codominant and recessive models. However, in the dominant model for both pediatric control and asthmatic patients, the association between the IgE and S2 polymorphism was insignificant (p-value = 0.7271 and 0.5259, respectively). This study found a statistically significant association between multiple ADAM33 genetic polymorphisms and IgE levels. Such findings add to the growing evidence that the ADAM33 gene has a major impact on IgE levels among asthmatic patients of Jordanian origin.
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MIRJALILI, Seyed Alireza, Mansour MOGHIMI, Kazem AGHILI, Mohammadali JAFARI, Seyed Mojtaba ABOLBAGHAEI, Hossein NEAMATZADEH, Mahta MAZAHERI, and Masoud ZARE-SHEHNEH. "ASSOCIATION OF PROMOTER REGION POLYMORPHISMS OF INTERLEUKIN-10 GENE WITH SUSCEPTIBILITY TO COLORECTAL CANCER: A SYSTEMATIC REVIEW AND META-ANALYSIS." Arquivos de Gastroenterologia 55, no. 3 (September 2018): 306–13. http://dx.doi.org/10.1590/s0004-2803.201800000-66.
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ABSTRACT BACKGROUND: Several epidemiological studies have investigated the association of promoter region polymorphisms of Interleukin-10 (IL-10) gene with colorectal cancer (CRC), while the conclusion is still conflicting and inconclusive. OBJECTIVE: We conducted this meta-analysis to evaluate the association of promoter region polymorphisms of IL-10 with CRC. METHODS: Eligible articles were identified by a search of several bibliographic databases for the period up to March 15, 2018. The strength of the association was measured by odd ratios with 95% confidence intervals. RESULTS: A total of 28 case-control studies with 5,647 CRC cases and 6,908 controls were selected, including 14 studies for IL-10 -1082A>G (rs1800896) polymorphism (2,702 cases and 3,649 controls), eleven studies for -592C>A (rs1800872) polymorphism (3,259 cases and 4,992 controls), and three studies for -819T>C (rs1800871) polymorphism (477 cases and 544 controls). By pooling all eligible studies, we found that the IL-10 -1082A>G and -592C>A polymorphisms were not associated with increased CRC risk in overall population. However, there was significant associations between the IL-10 -819T>C polymorphism and CRC susceptibility under the allele model (A vs G: OR=1.278, 95% CI 1.043-1.566, P=0.018) and the recessive model (AA vs AG+GG: OR=1.709, 95% CI 1.026-2.845, P=0.039). CONCLUSION: In this meta-analysis we found that IL-10 -819T>C polymorphism was associated with significantly increased risk of CRC; while the IL-10 -1082A>G and -592C>A polymorphisms were not associated with CRC risk. The IL-10 -819T>C polymorphism may be important as suspected predictive factor of CRC occurrence.
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Tsai, Ming-Kai, Hui-Min David Wang, Jeng-Chuan Shiang, I.-Hung Chen, Chih-Chiang Wang, Ya-Fen Shiao, Wen-Sheng Liu, Tai-Jung Lin, Tsung-Ming Chen, and Ya-Huey Chen. "Sequence Variants ofADIPOQand Association with Type 2 Diabetes Mellitus in Taiwan Chinese Han Population." Scientific World Journal 2014 (2014): 1–7. http://dx.doi.org/10.1155/2014/650393.
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Diabetes is a serious global health problem. Large-scale genome-wide association studies identified loci for type 2 diabetes mellitus (T2DM), including adiponectin (ADIPOQ) gene and transcription factor 7-like 2 (TCF7L2), but few studies clarified the effect of genetic polymorphisms ofADIPOQandTCF7L2on risk of T2DM. We attempted to elucidate association between T2DM and polymorphic variations of both in Taiwan’s Chinese Han population, with our retrospective case-control study genotyping single nucleotide polymorphisms (SNPs) inADIPOQandTCF7L2genes both in 149 T2DM patients and in 139 healthy controls from Taiwan. Statistical analysis gauged association of these polymorphisms with risk of T2DM to showADIPOQrs1501299 polymorphism variations strongly correlated with T2DM risk(P=0.042), with rs2241766 polymorphism being not associated with T2DM(P=0.967). However, both polymorphisms rs7903146 and rs12255372 ofTCF7L2were rarely detected in Taiwanese people. This study avers thatADIPOQrs1501299 polymorphism contributes to risk of T2DM in the Taiwanese population.
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Laine, Marja L., Bruno G. Loos, and W. Crielaard. "Gene Polymorphisms in Chronic Periodontitis." International Journal of Dentistry 2010 (2010): 1–22. http://dx.doi.org/10.1155/2010/324719.
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We aimed to conduct a review of the literature for gene polymorphisms associated with chronic periodontitis (CP) susceptibility. A comprehensive search of the literature in English was performed using the keywords: periodontitis, periodontal disease, combined with the words genes, mutation, or polymorphism. Candidate gene polymorphism studies with a case-control design and reported genotype frequencies in CP patients were searched and reviewed. There is growing evidence that polymorphisms in theIL1, IL6, IL10, vitamin D receptor, andCD14genes may be associated with CP in certain populations. However, carriage rates of the rare -allele of any polymorphism varied considerably among studies and most of the studies appeared under-powered and did not correct for other risk factors. Larger cohorts, well-defined phenotypes, control for other risk factors, and analysis of multiple genes and polymorphisms within the same pathway are needed to get a more comprehensive insight into the contribution of gene polymorphisms in CP.
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Wu, Pei-Liang, Xiao Chun Ling, Eugene Yu-Chuan Kang, Kuan-Jen Chen, Nan-Kai Wang, Laura Liu, Yen-Po Chen, et al. "Effects of TIMP-2 Polymorphisms on Retinopathy of Prematurity Risk, Severity, Recurrence, and Treatment Response." International Journal of Molecular Sciences 23, no. 22 (November 17, 2022): 14199. http://dx.doi.org/10.3390/ijms232214199.
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Tissue inhibitors of metalloproteinases (TIMPs) play a crucial role in endogenous angiogenesis besides the regulation of matrix metalloproteinase (MMP) activity. Associations between TIMP-2 gene polymorphisms and the risk of retinopathy of prematurity (ROP) were examined. Premature infants born between 2009 and 2018 were included. Five single-nucleotide polymorphisms (SNPs) of TIMP-2 were analyzed with real-time polymerase chain reaction (PCR). Multivariate logistic regression was applied to model associations between TIMP-2 polymorphisms and ROP susceptibility and severity. The GA+AA genotype in individuals with the TIMP-2 polymorphism of rs12600817 was associated with a higher risk of ROP (odds ratio [OR]: 1.518, 95% confidence interval [CI]: 1.028–2.242) compared with their wild-type genotypes. The AA genotype (OR: 1.962, 95% CI: 1.023–3.762) and the AA+GA genotype (OR: 1.686, 95% CI: 1.030–2.762) in individuals with the rs12600817 polymorphism had higher risks of severe, treatment-requiring ROP relative to their wild-type counterparts. In patients with treatment-requiring ROP, the AG+GG genotypes in the TIMP-2 polymorphism of rs2889529 were correlated with the treatment response (p = 0.035). The TIMP-2 polymorphism of rs12600817 help in predicting ROP risks in preterm infants, while the polymorphism of rs2889529 can serve as a genetic marker in evaluating the ROP treatment response.
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XIAO, YANGMING, WEIJING HE, and I. JON RUSSELL. "Genetic Polymorphisms of the ß2-Adrenergic Receptor Relate to Guanosine Protein-coupled Stimulator Receptor Dysfunction in Fibromyalgia Syndrome." Journal of Rheumatology 38, no. 6 (March 15, 2011): 1095–103. http://dx.doi.org/10.3899/jrheum.101104.
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Objective.To determine the genotype frequencies of ß2-adrenergic receptor (ß2AR) gene polymorphisms (Gly16Arg, Glu27Gln) in patients with fibromyalgia syndrome (FM) by comparison with unrelated healthy controls. We sought any clinical association with these polymorphisms and determined whether the polymorphisms would associate with a biologic guanosine protein-coupled stimulator receptor (Gs) dysfunction in FM.Methods.Study subjects included 97 clinically characterized patients with FM and 59 controls. The ß2AR polymorphisms at codons 16 and 27 were determined using polymerase chain reaction-restriction fragment length polymorphism. The Gs functions of peripheral blood mononuclear cells (PBMC) were tested using isoproterenol (ISO) as the adrenergic Gs ligand and measuring intracellular cyclic adenosine monophosphate (cAMP) levels.Results.The frequency of the ß2AR gene polymorphism Gly16Arg in FM (43.5%) was significantly lower than in controls (63.2%), suggesting that this genotype might have some effect on the risk of developing FM. The only clinical association in FM was with sleep dysfunction. Patients with FM who carried the ß2AR polymorphism Arg16Arg also exhibited significantly lower PBMC basal cAMP levels (p < 0.05) and lower ISO-stimulated cAMP levels (p < 0.05) than FM carrying Gly16Gly or Gly16Arg.Conclusion.This confirms a relationship between ß2AR polymorphism and FM. It is the first study to demonstrate ß2AR polymorphism-related differences in intracellular cAMP responses of FM PBMC after ß2AR stimulationin vitro. These findings may explain some of the differences in responsiveness of FM subgroups to the adrenergic agonist medications currently approved for FM treatment.
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Celec, Peter, Daniela Ostatníková, Zuzana Holešová, Gabriel Minárik, Andrej Ficek, Silvia Kelemenová, Zdeněk Putz, and Matúš Kúdela. "Spatial Abilities in Prepubertal Intellectually Gifted Boys and Genetic Polymorphisms Related to Testosterone Metabolism." Journal of Psychophysiology 23, no. 1 (January 2009): 1–6. http://dx.doi.org/10.1027/0269-8803.23.1.1.
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Spatial abilities are known to be related to testosterone levels in men. Polymorphisms of genes related to androgen metabolism, however, have not been previously analyzed in association with spatial abilities. Our study analyzes genetic polymorphisms of androgen receptor (AR), aromatase (CYP19), and 5-alpha reductase (SRD5A2) in relation to mental rotation and spatial visualization in prepubertal intellectually gifted boys. DNA samples of 36 boys with an average age of 10.0 ± 0.7 years and an IQ higher than 130 were isolated from buccal cells in saliva. DNA was subsequently used for amplification by PCR. The CYP19 C1558-T polymorphism and SRD5A2 A49T polymorphism were determined by RFLP analysis, and the AR (CAG)n polymorphism was determined by fragment analysis. Salivary testosterone levels were measured with radioimmunoassay. Spatial abilities (mental rotation and spatial visualization) were assessed using standard psychometric tests. AR and CYP19 polymorphisms were not associated with spatial abilities. Heterozygotes in A49T polymorphisms (AT) of SRD5A2 had significantly better results in both mental rotation and spatial visualization tests compared to AA homozygotes. TT homozygotes were not found. The T allele of A49T polymorphism of the SRD5A2 was reported to have a 5-fold increased activity in comparison to the A allele. AT heterozygotes outscored AA homozygotes in tests of spatial performance. Since dihydrotestosterone – the product of 5-alpha reductase catalyzed reaction – has a higher affinity to AR, this might indicate a potential molecular mechanism for the influence of SRD5A2 polymorphism on spatial abilities in intellectually gifted prepubertal boys.
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Khaled, Bedewy M., Abou Seada M. Noha, Antonios A. M. Manal, and Saleh M. Engy. "Role of Toll-Like Receptors 2 and 4 Genes Polymorphisms in Neonatal Sepsis in a Developing Country: A Pilot Study." Journal of Pediatric Infectious Diseases 15, no. 06 (August 20, 2020): 276–82. http://dx.doi.org/10.1055/s-0040-1714710.
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Abstract Objective Toll-like receptors (TLR) are one of the key molecules that alert the immune system to the presence of microbial infections. This study attempts to elucidate the role of TLR2 and TLR4 polymorphisms in neonatal sepsis. Methods A case–control study including 30 neonates with confirmed sepsis compared with 20 neonates in a control group. TLR2 and TLR24 gene polymorphisms were confirmed by polymerase chain reaction. Results The majority of infections were attributed to gram-negative organisms (72.5%) namely Klebsiella pneumoniae, Pseudomonas aeruginosa, and Escherichia coli. Results also revealed that incidence of TLR polymorphism was significantly different between the sepsis and control groups (p = 0.016). The most common polymorphism was TLR2; Arg 753 Gln (16.7%). Presence of TLR polymorphism was also associated with a longer duration of therapy (a median of 10 days for cases with positive polymorphism compared with 6.5 days for negative cases; p = 0.001). Conclusion This pilot study suggests that any polymorphisms in TLR2 and TLR4 might have a role that interferes with the innate immune response of newborn.
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Tot, Şenel, M. Emin Erdal, Kemal Yazıcı, Aylin Ertekin Yazıcı, and Özmen Metin. "T102C and –1438 G/A polymorphisms of the 5-HT2A receptor gene in Turkish patients with obsessive–compulsive disorder." European Psychiatry 18, no. 5 (August 2003): 249–54. http://dx.doi.org/10.1016/s0924-9338(03)00066-x.
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AbstractObjectiveThis study aimed to investigate the possible association between T102C and –1438 G/A polymorphism in the 5-HT2A receptor gene and susceptibility to and clinical features of obsessive–compulsive disorder (OCD).MethodFifty-eight patients with OCD and 83 healthy controls were included in the study. All patients were interviewed and rated by Yale-Brown Obsessive–Compulsive Scale. T102C and –1438 G/A polymorphisms of 5-HT2A receptor gene were determined by PCR technique in DNAs of peripheral leucocytes.ResultsOCD patients and healthy controls did not show significant differences in genotype distribution for both polymorphisms investigated. We found that frequencies of the TT genotype for T102C polymorphism and the AA genotype for –1438 G/A polymorphism were significantly higher in patients with severe OCD compared to those with moderate or moderate–severe OCD.ConclusionThe –1438 G/A and T102C polymorphisms of the 5-HT2A receptor gene are not associated with an increased risk of OCD. Our data suggest that the TT genotype of T102C and the AA genotype of –1438 G/A polymorphism might be a factor in clinical severity of OCD.
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Özkan, M., I. Koçyigit, M. Dikilitas, Y. Özkul, I. Sari, H. Karaca, F. Emirogullari, B. Eser, O. Er, and A. Unal. "The impact of genetic factors in the development of thrombosis in cancer patients." Journal of Clinical Oncology 27, no. 15_suppl (May 20, 2009): e22227-e22227. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e22227.
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e22227 Background: Thromboembolism is frequent in patients with cancer. Although it is known that several acquired factors take place in this process, the role of the genetic factors is controversial. In this study we analysed the most common genetic polymorphisms which have a role in the development of thrombosis. Methods: Study population consists of 292 (158 with thrombosis and 134 without thrombosis) patients treated between 2004 and 2008. Thrombosis was diagnosed by clinically and radiological measures in any time during the course of disease. Factor V Leiden G1691A, Prothrombin G20210A, Methlene Tetra Hydrofolate Reductase (MTHFR) C677T and Plazminogen Activator Inhibitor (PAI-1) 4G/5G were analysed with PCR-RFLP (Polymerase Chain Reaction- Restriction Fragment Length Polymorphism). Results: In the study group 48 and 1 patient had heterozygot and homozygot polymorphism for Factor V Leiden G1691A respectively. In the control group 32 heterozygot and 1 homozygot polymorphism and there was no statistically significant differents between study and control group (p=0,462).For Protrombin G20210A 11 and 4 heterozygot polymorphism were observed in control and study group respectively. While there was 1 homozygot polymorphism in study group there was no in control group and the difference between two groups was not statistically significant (p=0,198). For MTHFR C677T, 48 and 24 heterozygot polymorphism, 15 and 12 homozygot polymorphism were observed in study and control group respectively. The difference between two groups were statistically significant (p=0,04). There was no statistically significant difference between two groups for PAI-1 4G/5G polymorphisms (p=0,362). In subgroup analyses, statistically significant difference was found only in MTHFR C677T polymorphism in patients with GI cancer and with and without thrombosis (p=0,028). Conclusions: The studies investigating the relationship between genetic factors and thrombosis revealed controversial results. However, we found no genetic factor relevant to thrombosis other than MTHFR C677T polymorphism. Further studies investigating genetic and acquired factors in the development of the thrombosis in detail are warranted for documenting clearly the role of genetic polymorphisms. No significant financial relationships to disclose.
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Obraztsova, G. I., A. S. Glotov, T. V. Stepanova, T. E. Ivashchenko, and Y. R. Kovalev. "Analysis of polymorphisms of renin-angiotensin system and bradykinin receptor genes in children and adolescents with primary arterial hypertension." "Arterial’naya Gipertenziya" ("Arterial Hypertension") 12, no. 2 (April 28, 2006): 156–60. http://dx.doi.org/10.18705/1607-419x-2006-12-2-156-160.
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We inspected 179 children and adolescents aged 9-17 years with primary arterial hypertension (AH) and 158 schoolchildren aged 7-17 years. All the hypertensive children underwent 24 hour ABPM. Family history of all the children was studied in particular of cardiovascular diseases. The 19-83G/A polymorphism of renin gene (REN), the M235T polymorphism of the angiotensinogen gene (AGT), the I/D polymorphism of angiotensin converting gene (ACE), the Al 166C polymorphism of angiotensin II type 1 receptor (AGTR1) gene, the C3123A polymorphism of angiotensin II type 2 receptor gene (AGTR2), I/D and T/С polymorphisms of the bradykinin receptor 2 gene (BKR2), were analyzed. We found out the significant increase of A allele and genotype AA of 19-83G/A polymorphism of gene REN frequencies of the children with stable AH in comparison with control group. In the group of children with stable hypertension - in comparison with the group of children, who has white coat hypertension and labile AH, we found out statistically significant prevalence of T allele the M235T polymorphism of the gene AGT. Distribution of I/D polymorphisms frequencies for ACE and BKR genes was similar in children and adolescents with primary AH compared to control group. The children with AH, who had relatives with coronary disease, had significant increase of A allele and genotype AA polymorphism A1166C of gene AGTR1 frequencies. We did not find out significant differences in distribution of A and С alleles of C3123A polymorphism of gene AGTR2 between the hypertensive children and control group. The males with AH had significant distribution difference of alleles polymorphism T58C gene BKR2 with allele С increase.
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Nowacka-Zawisza, Maria, Agata Raszkiewicz, Tomasz Kwasiborski, Ewa Forma, Magdalena Bryś, Waldemar Różański, and Wanda M. Krajewska. "RAD51 and XRCC3 Polymorphisms Are Associated with Increased Risk of Prostate Cancer." Journal of Oncology 2019 (May 2, 2019): 1–8. http://dx.doi.org/10.1155/2019/2976373.
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Genetic polymorphisms in DNA repair genes may affect DNA repair efficiency and may contribute to the risk of developing cancer. The aim of our study was to investigate single nucleotide polymorphisms (SNPs) in RAD51 (rs2619679, rs2928140, and rs5030789) and XRCC3 (rs1799796) involved in DNA double-strand break repair and their relationship to prostate cancer. The study group included 99 men diagnosed with prostate cancer and 205 cancer-free controls. SNP genotyping was performed using the PCR-RFLP method. A significant association was detected between RAD51 rs5030789 polymorphism and XRCC3 rs1799796 polymorphism and an increased risk of prostate cancer. Our results indicate that RAD51 and XRCC3 polymorphism may contribute to prostate cancer.
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Yang, Jiajia, Renfang Han, Mengya Chen, Yaping Yuan, Xingxing Hu, Yubo Ma, Meng Wu, et al. "Associations of Estrogen Receptor Alpha Gene Polymorphisms with Type 2 Diabetes Mellitus and Metabolic Syndrome: A Systematic Review and Meta-Analysis." Hormone and Metabolic Research 50, no. 06 (June 2018): 469–77. http://dx.doi.org/10.1055/a-0620-8553.
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AbstractThe associations between PvuII (T>C) and XbaI (A>G) polymorphisms of estrogen receptor alpha (ESR1) gene with type 2 diabetes mellitus (T2DM) or metabolic syndrome (MetS) are reported in many studies, but the results are inconsistent. This present work aims to assess the associations by performing a comprehensive meta-analysis. Relevant studies were searched through several databases. The pooled odd ratios (ORs) with 95% confidence intervals (CIs) were calculated to evaluate the associations of PvuII and XbaI polymorphisms with the risk of T2DM and MetS by using the STATA 14.0 software. Eight studies for T2DM and three articles about MetS were included in this meta-analysis. The overall results indicated that PvuII, rather than XbaI polymorphism, was associated with T2DM (regressive model: OR=0.673, 95% CI=0.550 to 0.823, praw<0.001, pFDR<0.003). The subgroup analysis based on race revealed an association of PvuII polymorphism with the decreased T2DM risk in Chinese population and a relationship between XbaI polymorphism and the reduced T2DM susceptibility in Caucasians. The difference of country may be one source of the heterogeneity for PvuII polymorphism and T2DM. However, neither PvuII nor XbaI polymorphism was related to the risk of MetS. The C allele of PvuII polymorphism presents a protective role in T2DM risk, especially in Chinese people. The G allele of XbaI polymorphism is related to a reduced risk for T2DM in Caucasian population. Nevertheless, neither of PvuII nor XbaI polymorphism is associated with MetS risk.
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Zeng, Juan, and Qinghua Zeng. "Correlations between methylenetetrahydrofolate reductase gene polymorphisms and venous thromboembolism: A meta-analysis of 99 genetic association studies." European Journal of Preventive Cardiology 26, no. 2 (November 22, 2018): 120–34. http://dx.doi.org/10.1177/2047487318799467.
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We performed this meta-analysis to better assess the relationship between methylenetetrahydrofolate reductase gene ( MTHFR) polymorphisms and the risk of venous thromboembolism. Eligible studies were searched in PubMed, Medline, Embase, and Web of Science. Odds ratios with 95% confidence intervals were used to assess associations of MTHFR polymorphisms with venous thromboembolism. A total of 99 genetic association studies were enrolled for analyses. Although no positive results were detected in overall analyses for the rs1801131 polymorphism. Further subgroup analyses according to ethnicity of participants and type of disease revealed that the rs1801131 polymorphism was significantly correlated with the risk of pulmonary embolism. For the rs1801133 polymorphism, significant association with the risk of venous thromboembolism was found in the dominant, recessive, and allele models. Further subgroup analyses according to ethnicity of participants revealed that the rs1801133 polymorphism was significantly associated with the risk of venous thromboembolism in Caucasians, East Asians, and West Asians. When we stratified available data according to type of disease, we found that the rs1801133 polymorphism was also significantly correlated with the risk of deep vein thrombosis and pulmonary embolism. In conclusion, our findings indicate that the MTHFR rs1801133 polymorphism may serve as a potential biological marker for venous thromboembolism in Caucasians, East Asians, and West Asians. Moreover, the MTHFR rs1801133 polymorphism may be implicated in the development of deep vein thrombosis and pulmonary embolism, while the MTHFR rs1801131 polymorphism may contribute to the development of pulmonary embolism.