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Journal articles on the topic 'Polymorphisms'
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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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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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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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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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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 &#x2AAC 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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Turgal, Mert, Fatma Gumruk, Ergun Karaagaoglu, and Mehmet Beksac. "Methylenetetrahydrofolate Reductase Polymorphisms and Pregnancy Outcome." Geburtshilfe und Frauenheilkunde 78, no. 09 (September 2018): 871–78. http://dx.doi.org/10.1055/a-0664-8237.
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Abstract Introduction Aim of the study was to evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) polymorphisms on pregnancy outcome. Materials and Methods A total of 617 pregnancies of women who were investigated for MTHFR C677T and A1298C polymorphisms prior to pregnancy were included in the study. Cases were classified into “homozygous polymorphisms” (Group I), “heterozygous polymorphisms” (Group II), and patients without polymorphisms who functioned as controls (Group III). Patients with polymorphisms were assigned to a specific protocol at least 3 months before becoming pregnant. Administration of low molecular weight heparin (LMWH) was started very early during pregnancy. The Beksac Obstetrics Index (BOI) was used to estimate the obstetric risk levels for the different groups. Results We found that the early pregnancy loss (EPL) rate increased as MTHFR polymorphism complexity increased and that the early EPL rate was significantly higher in patients with MTHFR C677T polymorphism compared to patients with MTHFR A1298C polymorphism (p = 0.039). There were significant differences between the previous pregnancies of the patients in the 3 study groups in terms of perinatal complications and EPLs (p = 0.003 and p = 0.019). The BOI decreased as the severity of polymorphisms increased. An association between MTHFR polymorphisms and congenital malformations and chromosomal abnormalities was observed. We could not demonstrate any statistically significant difference between study groups when the 3 groups were compared with regard to the pregnancy outcomes under specific management protocols. Conclusion MTHFR polymorphisms are potential risk factors for adverse pregnancy outcomes.
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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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Kuramochi, Hidekazu, Hitoshi Kanno, Tomotaka Uchiyama, Go Nakajima, Kayoko Saito, and Kazuhiko Hayashi. "Comprehensive analysis of genetic polymorphisms and irinotecan-induced adverse events in Japanese gastrointestinal cancer patients: A DMET microarray profiling study." Journal of Clinical Oncology 30, no. 15_suppl (May 20, 2012): e21108-e21108. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.e21108.
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e21108 Background: Irinotecan is a key drug in the treatment of colorectal and gastric cancer, that may occasionally cause severe adverse events (AEs), especially neutropenia and diarrhea. Although UDP-glucuronosyltransferase (UGT)1A1 polymorphisms are used as biomarkers for predicting AEs, the effect of UGT1A1 polymorphism in clinical use is limited, suggesting that there is a possibility of the existence of other, unknown biomarkers. Methods: Fourteen gastrointestinal cancer (5 gastric, 9 colorectal) patients who had undergone irinotecan-based chemotherapy were enrolled. DNA extracted from peripheral blood cells was genotyped by the DMET Plus microarray system, and 1,931 gene polymorphisms were investigated. The relationship between AEs and polymorphisms was analyzed statistically. Results: Eleven polymorphisms showed the P value < 0.05 with grade 3,4 neutropenia, but no statistically significant polymorphisms were found after the correction of multiple comparisons. With respect to the association with diarrhea, 12 polymorphisms showed P <0.05, and even after the correction of multiple comparisons, CYP2F1_96G>A(P32P) showed a significant relationship (P<0.00001). With respect to the relationship between UGT1A1*6, *28 polymorphisms and AEs, *6 polymorphism showed significant (P=0.044) association with grade 4 neutropenia. Conclusions: CYP2F1_96G>A showed significant association with diarrhea. The association of UGT1A1*6 polymorphism and neutropenia was confirmed, as in previous reports.
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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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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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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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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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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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Luan, Xiaohui, Yuxun Zhou, Wei Wang, Hong Yu, Pin Li, Xiaohong Gan, Dongzhi Wei, and Junhua Xiao. "Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls." European Journal of Endocrinology 157, no. 1 (July 2007): 113–18. http://dx.doi.org/10.1530/eje-07-0061.
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Objective: The kisspeptin/GPR54 pathway has been proven to be crucial in the process of puberty onset, yet the polymorphisms in the KISS1 gene and their relationships with central precocious puberty (CPP) have not been investigated. This study was performed to reveal the relationship between the gene and the disease. Design and Methods: 272 Chinese Han girls diagnosed to be CPP patients were recruited as Case Group I, 43 unrelated African women as Case Group II, and 288 unrelated normal Chinese Han girls as Control Group. Polymorphism scans of the KISS1 gene were performed for the first time by bidirectional resequencing of the whole gene in a subset of the patients, and then by ligase detection reaction some of the polymorphisms identified were typed in the two groups and the respective haplotypes were constructed. The relationships of the typed polymorphisms and the haplotypes with CPP were evaluated by an association study between genotypes and phenotypes. Results: By resequencing, eight polymorphisms were identified, five of which were typed forming 18 haplotypes. Although one novel nonsynonymous single nucleotide polymorphism substituting one amino acid in kisspeptin (P110T) was found to be statistically related to the disease (P = 0.025), no further supporting evidence has yet been found. The other polymorphisms and all the haplotypes were not found to be related. Conclusion: The polymorphism scanning and typing of KISS1 uncovered several potentially meaningful polymorphisms, but the conclusion was not solid and further studies are necessary for function validation of these polymorphisms.
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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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He, Lei, Tao Deng, and He-sheng Luo. "Heat Shock Protein 70 Gene Polymorphisms and Cancer Risk: A Meta-Analysis." Scientific World Journal 2014 (2014): 1–9. http://dx.doi.org/10.1155/2014/540309.
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The polymorphisms in the three main heat shock protein 70 (HSP70-1, HSP70-2, and HSP70-hom) genes were identified to be associated with cancer risk. However, the results are inconsistent. We perform a meta-analysis to evaluate the association between the three HSP70 polymorphisms and cancer risk. Relevant studies were identified using PubMed, Web of Science, Chinese National Knowledge Infrastructure (CNKI), and Wanfang databases up to March 29, 2014. The cancer risk associated with the HSP70 polymorphisms was estimated for each study by odds ratios (OR) together with its 95% confidence interval (CI), respectively. Twenty case-control studies from eighteen publications were included; a significant association was observed for HSP70-2 polymorphism (dominant model: OR = 1.53, 95% CI: 1.11–2.09; recessive model: OR = 1.91, 95% CI: 1.06–3.45; AG versus AA: OR = 1.38, 95% CI: 1.03–1.84; GG versus AA: OR = 2.34, 95% CI: 1.21–4.54), while there was no significant association for HSP70-1 and HSP70-hom polymorphisms. Besides, in stratification analyses by ethnicity, cancer type, and source of control, significant association was detected for HSP70-2 polymorphism, while for HSP70-hom polymorphism, we found a significant association in hospital-based population under homozygote comparison model. This meta-analysis suggests that the HSP70-2 polymorphism rather than HSP70-hom and HSP70-1 polymorphisms was associated with the risk of cancer.
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Sufiawati, Irna, Risti Saptarini, and Eriska Riyanti. "HUBUNGAN POLIMORFISME GEN RESEPTOR ESTROGEN ALFA DENGAN JUMLAH SEL T CD4+ PADA ANAK TERINFEKSI HIV." ODONTO : Dental Journal 4, no. 2 (December 1, 2017): 94. http://dx.doi.org/10.30659/odj.4.2.94-100.
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Background: Estrogen plays a key role in human physiological processes. Polymorphisms of estrogen receptors have been implicated in the development of numerous diseases. The aim of this study was to evaluate the frequency of ERα gene Pvull and Xbal polymorphisms and assessing their association with CD4+ T-cell counts in HIV-infected children on highly active antiretroviral therapy.Methods: CD4+ T cell counts were determined using the FACS count system. ERα PvuII and XbaI polymorphisms were analyzed by PCR-RFLP.Results: This study enrolled 34 HIV-infected children on HAART. The frequencies of the PvuII and XbaI gene polymorphisms were PP 41,2%, Pp 26,5%, pp 32,4% and XX 35,3%, Xx 17,6%, xx 47,1% respectively. CD4+ T-cell counts were significantly associated with XbaI polymorphisms (p<0.05), but not PvuII polymorphisms (p>0.01).Discussion: Host genetic factor polymorphism is an important determinant of HIV disease progression and treatment response. The ERα Pvull and Xbal polymorphisms can increase risk for the development of HIV-related complication,including oral diseases.Conclusion: The ERα gene XbaI polymorphism was significantly associated with CD4+ T-cell counts. It may explain the role of estrogen in the regulation of HIV replication. Studying human genetic variation in HIV-infected individuals is important to guide a new therapeutic approach.
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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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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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Król-Kulikowska, Magdalena, Mirosław Banasik, and Marta Kepinska. "The Effect of Selected Nitric Oxide Synthase Polymorphisms on the Risk of Developing Diabetic Nephropathy." Antioxidants 13, no. 7 (July 13, 2024): 838. http://dx.doi.org/10.3390/antiox13070838.
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Background: Nitric oxide synthase (NOS) is an enzyme that catalyzes the formation of nitric oxide (NO), the altered production of which is characteristic of diabetic nephropathy. NOS exists in three isoforms: NOS1, NOS2, and NOS3. Moreover, there are reports about the potential role of NOS3 polymorphisms in the development of diabetes complications. The aim of this study was to assess the role of selected NOS polymorphisms—rs3782218 (NOS1), rs1137933 (NOS2), rs1799983, rs2070744, and rs61722009 (NOS3)—in the risk of developing diabetic nephropathy and in the likelihood of renal replacement therapy. Methods: The studied polymorphisms were analyzed in a group of 232 patients divided into three groups. Four polymorphisms (rs3782218, rs1137933, rs1799983, rs2070744) were genotyped using the PCR-RFLP, while the rs61722009 polymorphism was genotyped using the PCR. Results: The C/C genotype and the C allele of the rs3782218 polymorphism (NOS1) were associated with an increased risk of developing diabetic nephropathy and an increased likelihood of renal replacement therapy. In turn, the G allele of the rs1137933 polymorphism (NOS2) reduces the likelihood of renal replacement therapy. Conclusions: The specific genotypes or alleles of the rs3782218 (NOS1) and rs1137933 (NOS2) polymorphisms seem to be potential risk factors for diabetic nephropathy and renal replacement therapy.
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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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Jesús Estuardo, Luján Irastorza, Durand Montaño Carlos, Ávila Rebollar Daniela, Kava Braverman Alejandro, Hernández Ramos Roberto, Ávila Pérez Felipe de Jesús, Guerrero Vargas José Juan, Pariente Fernández Maruxa, Paredes Núñez María Angélica, and Gabriel de la Rosa Ruiz. "Prevalence of TNFa (G308A and G238A) and LTa (A252G) polymorphisms in women with pregnancy loss ? study carried out in a private clinic of Mexico City." Obstetrics & Gynecology International Journal 12, no. 3 (June 1, 2021): 183–88. http://dx.doi.org/10.15406/ogij.2021.12.00573.
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Background: Tumor necrosis factor (TNF) is a cytokine that includes different types of molecules that participate in cellular and organic responses, and Single Nucleotide Polymorphisms (SNPs) in TNF are associated to the pathogenesis of chronic inflammatory diseases and local or systemic autoimmune diseases. Objective: To know the prevalence of TNFα (G238A and G308A) and LTα (A252G) polymorphisms in a population of Mexican women with pregnancy loss. Materials and methods: This is a retrospective, observational and cross-sectional study of 184 Mexican women, with the aim of evaluating the presence of TNFa (G238A and G308A) and LTa A252G polymorphism; 3 groups were formed: 1) TNFa G238A, 2) TNFa G308A and 3) LTa A252G and each group was separated by homozygous and heterozygous mutation. Results: It was found an increase in prevalence in TNFa, G238A compared with TNFa G308A and LTa A252G (31.9 vs 25.4 and 26.5%). The heterozygous form was higher in prevalence compared with the homozygous. In 50.3% no mutations of TNFa G238A, TNFa G308A and LTa A252G were found; the number of patients that only presented one polymorphism was 23.2%, with 2 polymorphisms represent 21%, and presented 3 polymorphisms (5.3%). Conclusion: The prevalence of TNFa G238A, TNFa G308A and LTa A252G polymorphisms in Mexican population could be high. Said polymorphisms are associated to almost 50% of cases of women with pregnancy loss in this study; and patients with more than one polymorphism are susceptible to complications such as pregnancy loss.
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Maltais, Isabelle, Magdalena Bachvarova, Pierre Maheux, Patrice Perron, Francois Marceau, and Dimcho Bachvarov. "Bradykinin B2 receptor gene polymorphism is associated with altered urinary albumin/creatinine values in diabetic patients." Canadian Journal of Physiology and Pharmacology 80, no. 4 (April 1, 2002): 323–27. http://dx.doi.org/10.1139/y02-036.
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Diabetic nephropathy (DN) is an important microvascular complication of both insulin-dependent and non-insulin-dependent diabetes mellitus. Considerable evidence exists that genetic predisposition is a major determinant in the development of DN. Progress in the understanding of the kinin receptor gene expression indicates their relevance in nephrology and renal pathology. In order to investigate whether clinically relevant polymorphisms of the kinin receptor genes contribute to the genetic predetermination of the renal complication of diabetes, we have initiated a retrospective study with a mixed population of 49 type 1 and 112 type 2 diabetic patients who have been followed for several years by an endocrinologist and (or) nephrologist with periodical functional tests relevant to DN (microalbuminuria, serum and urinary creatinine). The allelic frequencies of four kinin receptor polymorphisms, including three B2R polymorphisms (the C/T58 promoter polymorphism, the exon 2 and exon 1 polymorphisms, all of them with assumed clinical significance) and the putative nephroprotective (G/C699) B1R promoter polymorphism, were analyzed in all recruited diabetic patients. Our results indicate a significant association of the B2R exon 1 (+/) genotype with increased urinary albumin/creatinine values (P = 0.026) and serum creatinine levels (P = 0.028). More importantly, the (+) allele of B2R exon 1 polymorphism was associated very significantly with lower albumin/creatinine values in these patients (P = 0.0087). Thus, the B2R exon 1 polymorphism may represent a susceptibility marker for nephropathy progression in diabetic patients.Key words: kinin receptors, gene polymorphisms, diabetic nephropathy.
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İnan-Erdoğan, Işıl, Sinem Akgül, Kübra Işgın-Atıcı, Tuğba Tuğrul-Yücel, Koray Boduroğlu, Orhan Derman, and Nuray Kanbur. "Effects of vitamin D and estrogen receptor polymorphisms on bone mineral density in adolescents with anorexia nervosa." Journal of Pediatric Endocrinology and Metabolism 32, no. 12 (December 18, 2019): 1377–84. http://dx.doi.org/10.1515/jpem-2019-0240.
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Abstract Background Anorexia nervosa (AN) is a serious eating disorder that is associated with decreased bone mineral density (BMD) and greater lifetime risk for fractures. The aim of this study was to determine the correlation between BMD and genetic polymorphisms in AN. Methods This case-control study analyzed vitamin D receptor (VDR) (VDRBsml, VDRFokl) and estrogen receptor (ESR) (ESR1Xbal, ESR1Pvull) polymorphisms in 45 adolescents diagnosed with AN and 46 age-matched healthy controls. BMD values of the AN group were classified as low or normal, and polymorphisms were compared between cases and controls. The effects of body mass index (BMI), duration of disease and amenorrhea on BMD were also evaluated. Results In girls with AN, a positive effect of the bb genotype of VDRBsmI polymorphism on femur Z-scores (p = 0.103) and of the Ff genotype of VDRFokI polymorphism on vertebra Z-scores (p = 0.097) was observed. In boys with AN, a positive effect of the Ff genotype of VDRFokI polymorphism on vertebra BMD (g/cm2) was detected (p = 0.061). No association was detected between ESR polymorphisms. An inverse relationship was observed between BMD and duration of illness and amenorrhea. A direct relationship was detected between BMD and BMI. Conclusions Specific VDR gene polymorphism genotypes may have positive effects on BMD in patients with AN. Additionally, the lack of association between ESR gene polymorphisms on BMD could be attributed to the low estrogen status of the patient.
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Colzato, Lorenza S., Heleen A. Slagter, Mischa de Rover, and Bernhard Hommel. "Dopamine and the Management of Attentional Resources: Genetic Markers of Striatal D2 Dopamine Predict Individual Differences in the Attentional Blink." Journal of Cognitive Neuroscience 23, no. 11 (November 2011): 3576–85. http://dx.doi.org/10.1162/jocn_a_00049.
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The attentional blink (AB)—a deficit in reporting the second of two target stimuli presented in close succession in a rapid sequence of distracters—has been related to processing limitations in working memory. Given that dopamine (DA) plays a crucial role working memory, the present study tested whether individual differences in the size of the AB can be predicted by differences in genetic predisposition related to the efficiency of dopaminergic pathways. Polymorphisms related to mesocortical and nigrostriatal dopaminergic pathways were considered, as well as polymorphisms related to norepinephrine (NE), a transmitter system that has also been suspected to play a role in the AB. In a sample of 157 healthy adults, we studied the dependency of the individual magnitude of the AB and the C957T polymorphism at the DRD2 gene (associated with striatal DA/D2 receptors), the DARPP32 polymorphism (associated with striatal DA/D1), the COMT Val158Met polymorphism (associated with frontal DA), DBH444 g/a and DBH5′-ins/del polymorphisms (polymorphisms strongly correlated with DA beta hydroxylase, the enzyme catalyzing the DA–NE conversion) and NET T-182C (a polymorphism related to the NE transporter). DRD2 C957T T/T homozygotes showed a significantly smaller AB, whereas polymorphisms associated with frontal DA and NE were unrelated to performance. This outcome pattern suggests a crucial role of the nigrostriatal dopaminergic pathway and of nigrostriatal D2 receptors, in particular, in the management of attentional resources.
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Brambila-Tapia, Aniel Jessica Leticia, Jorge Durán-González, Lucila Sandoval-Ramírez, Juan Pablo Mena, Mario Salazar-Páramo, Jorge Iván Gámez-Nava, Laura González-López, et al. "MTHFR C677T, MTHFR A1298C, and OPG A163G Polymorphisms in Mexican Patients with Rheumatoid Arthritis and Osteoporosis." Disease Markers 32, no. 2 (2012): 109–14. http://dx.doi.org/10.1155/2012/364894.
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MTHFR polymorphisms C677T and A1298C are associated with reduced MTHFR enzyme activity and hyperhomocysteinemia, which has been associated with osteoporosis. The A163G polymorphism inosteoprotegerin(OPG) has been studied in osteoporosis with controversial results. The objective of the present study was to investigate the association(s) among MTHFR C677T, MTHFR A1298C, and OPG A163G polymorphisms in Mexican patients with rheumatoid arthritis and osteoporosis. The femoral neck and lumbar spine bone mineral densities (BMDs) were measured in 71 RA patients, and genotyping for the three polymorphisms was performed via restriction fragment length polymorphism analysis. Patients with osteoporosis/osteopenia exhibited statistically significant differences in the genotype frequencies of MTHFR C677T as well as an association with femoral neck BMD; TT homozygotes had lower BMDs than patients with the CT genotype, and both of these groups had lower BMDs than patients with the CC genotype. The associations of the MTHFR C677T polymorphism with osteoporosis/osteopenia and femoral neck BMD suggest that these polymorphisms confer a risk of developing osteoporosis in patients with rheumatoid arthritis, a risk that may be reduced with folate and B complex supplementation.
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Chang, Qing, Zhong-lin He, Yu-chong Peng, Shi-gang Duan, Yu-xin Dai, and Xiao-hui Zhao. "A meta-analysis of MDR1 polymorphisms rs1128503 and rs1045642 and susceptibility to hepatocellular carcinoma." Journal of International Medical Research 47, no. 7 (June 24, 2019): 2800–2809. http://dx.doi.org/10.1177/0300060519855869.
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Objective A relationship between polymorphisms rs1128503 and rs1045642 in the multidrug resistance 1 gene ( MDR1) and susceptibility to hepatocellular carcinoma (HCC) has been reported but is inconclusive. This study was performed to explore the significance of MDR1 polymorphisms rs1128503 and rs1045642 in screening and diagnosis of HCC. Methods Studies of association analyses between MDR1 gene polymorphisms rs1128503 and rs1045642 and HCC were selected from three foreign language databases (PubMed, Cochrane, and Embase) and three Chinese databases (Wanfang, China National Knowledge Infrastructure, and China Knowledge Network) and subjected to meta-analysis. Results We found no significant relationship between the rs1128503 polymorphism and susceptibility to HCC in 4 cohorts and no significant relationship between the rs1045642 polymorphism and susceptibility to HCC in 3 cohorts. Conclusions There was no relationship between polymorphisms rs1128503 or rs1045642 of the MDR1 gene and susceptibility to HCC.
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Dib, Azza, Hanan Hijazi, Hana Hammoud, and Yasmeen Obeid. "Investigation of the Effect of Two Major eNOS Polymorphisms (4a/b and T786C) on Coronary Artery Disease in North Lebanon." International Research Journal of Multidisciplinary Scope 06, no. 01 (2025): 641–51. https://doi.org/10.47857/irjms.2025.v06i01.02762.
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Endothelial nitric oxide synthase is a crucial gene associated with coronary artery disease, owing to the important functions of nitric oxide in vessel protection and vasodilation. Three “Single Nucleotide Polymorphisms” were found to be significantly associated with CAD: ‘the 4a/b polymorphism in intron 4’, ‘G894T (GLU298ASP) in exon 7’, and ‘the T786C replacement in the flanking region’. This study aimed to explore the relationship between the '4a/b polymorphism of the eNOS gene', the 'T786C polymorphism of the eNOS gene', and 'the combined effect of both 4a/b and T786C' with the risk of CAD in the Northern Lebanese region. A total of 91 CAD cases and 36 Control healthy individuals were gathered to investigate the allelic frequency and genotypic distribution of the 27VNTR gene polymorphism. 70 of 91 cases and 24 of 36 healthy participants were considered for the T786C polymorphism investigation. Peripheral blood samples were collected, and the 4a/b polymorphism genotypes were determined using “polymerase chain reaction”. Genotypes for the T786C polymorphism were determined using “polymerase chain reaction-restriction fragment length polymorphism”. A comparison was made between the two groups regarding the distributions of genotypes and allele frequencies. In our sample, the "a allele" of the 4a/b polymorphism was observed in 14.17% of individuals, while the "C allele" of the T786C polymorphism was found in 27.7%. The Control and CAD groups showed no significant differences in the distributions of genotype and allele frequencies for the T786C and 4a/b gene polymorphisms. No additive effect of both polymorphisms was noted. Therefore, eNOS polymorphisms, in our study, do not show a significant association with CAD.
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Janowska, Magdalena, Natalia Potocka, Sylwia Paszek, Marzena Skrzypa, Kamila Żulewicz, Marta Kluz, Sławomir Januszek, et al. "An Assessment of GPX1 (rs1050450), DIO2 (rs225014) and SEPP1 (rs7579) Gene Polymorphisms in Women with Endometrial Cancer." Genes 13, no. 2 (January 21, 2022): 188. http://dx.doi.org/10.3390/genes13020188.
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Background: Numerous studies indicate a relationship between the presence of GPX1 (rs1050450), DIO2 (rs225014) and SEPP1 (rs7579) gene polymorphisms and the development of chronic or neoplastic diseases. However, there are no reports on the influence of these polymorphisms on the development of endometrial cancer. Methods: 543 women participated in the study. The study group consisted of 269 patients with diagnosed endometrial cancer. The control group consisted of 274 healthy women. Blood samples were drawn from all the participants. The PCR-RFLP method was used to determine polymorphisms in the DIO2 (rs225014) and GPX1 (rs1050450) genes. The analysis of polymorphisms in the SEPP1 (rs7579) gene was performed by means of TaqMan probes. Results: There was a 1.99-fold higher risk of developing endometrial cancer in CC homozygotes, DIO2 (rs225014) polymorphism (95% Cl 1.14–3.53, p = 0.017), compared to TT homozygotes. There was no correlation between the occurrence of GPX1 (rs1050450) and SEPP1 (rs7579) polymorphisms and endometrial cancer. Conclusion: Carriers of the DIO2 (rs225014) polymorphism may be predisposed to the development of endometrial cancer. Further research confirming this relationship is recommended.
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Morandi Aléssio, Aline, Lúcia Helena Siqueira, Egle Cristina Couto de Carvalho, Ricardo Barini, Antônio de Pádua Mansur, Nelci Fenalti Hoehr, and Joyce Maria Annichino-Bizzacchi. "Estrogen Receptor Alpha and Beta Gene Polymorphisms Are Not Risk Factors for Recurrent Miscarriage in a Brazilian Population." Clinical and Applied Thrombosis/Hemostasis 14, no. 2 (April 2008): 180–85. http://dx.doi.org/10.1177/1076029607304093.
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The aim of this study was to determine the prevalence of alpha (ESR1: c.454-397T>C and c.454-351A>G) and beta (ESR2: 1082G>A and 1730G>A) estrogen receptor gene polymorphisms in 2 Brazilian ethnic groups (Caucasian, African Brazilian) and to investigate their association with recurrent miscarriage (RM) in 75 women with a history of 3 or more consecutive pregnancy losses and 139 controls with at least 2 live births and no history of pregnancy loss. Polymerase chain reaction and restriction fragment length polymorphism were used to identify gene polymorphisms. Coagulation methods were used to measure protein C, protein S, and fibrinogen, and a chromogenic method was used for antithrombin quantification. Significantly higher prevalences of 1082G>A and 1730G>A polymorphisms were seen in African Brazilian and Caucasian controls, respectively. There was no association between RM and ESR polymorphisms. There was a difference in the genotype prevalence in the c.454-39T>C polymorphism between RM and control Caucasians, but this finding was not associated with an increased risk of miscarriage. There was no synergistic or additive effect between ESR polymorphisms and thrombophilia in RM patients. A difference in the prevalence of ESR polymorphisms was observed, according to ethnic origin. ESR polymorphisms could not be considered a risk factor for RM.
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Ismayilova, Nergiz, Melis Palamar, Huseyin Onay, Emine Ipek Ceylan, Tahir Atik, Taner Akalin, and Ayse Yagci. "Vitamin D receptor gene polymorphisms in ocular surface squamous cell neoplasms." European Journal of Ophthalmology 30, no. 5 (June 24, 2019): 901–7. http://dx.doi.org/10.1177/1120672119858225.
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Purpose: To investigate vitamin D receptor polymorphisms in ocular surface squamous cell neoplasm and to evaluate the relationship between the identified polymorphisms and susceptibility to ocular surface squamous cell neoplasm and the clinical course. Materials and Methods: A totala of 70 patients with ocular surface squamous cell neoplasm (study group) and 75 healthy age and gender-matched individuals (control group) were included in the study. Vitamin D receptor FokI and BsmI polymorphisms were examined. The relationships between histopathological diagnosis, recurrence rates, tumor stage, and identified polymorphisms were investigated. Results: Histopathologically, 43 of the cases were squamous cell carcinoma and 27 of the cases were conjunctival intraepithelial neoplasia. The frequency of FokI (FF, Ff, ff) and BsmI (BB, Bb, bb) polymorphism genotype of vitamin D receptor gene were similar in the groups. The frequency of polymorphism (heterozygous or homozygous) for BsmI (Bb and bb) was significantly higher (p = 0.046) in the study group, while no difference was found between the groups in terms of polymorphic carriers (heterozygous or homozygous) for FokI. There was no correlation between tumor stage, recurrence-polymorphism frequency, and patient age-polymorphism frequency. Conclusion: It is known that active vitamin D inhibits the growth of cancer cells by binding to vitamin D receptor with regulation of genes responsible for cell proliferation. The presence of BsmI polymorphism in vitamin D receptor, in particular bb genotype and b allele, appears to be associated with the susceptibility of ocular surface squamous cell neoplasm. BsmI gene polymorphisms of vitamin D receptor might play an effective role in the formation, progression, and in the course of ocular surface squamous cell neoplasm.
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Dabre, Soayebo, Abdou Azaque Zoure, Touwendpoulimdé Isabelle Kiendrébéogo, Nayi Zongo, Lanyo Jospin Amegnona, Herman Karim Sombie, Marc Donald Wilfried Adico, et al. "Involvement of p.R72P and PIN3 Ins16bp (TP53) Polymorphisms and the I157T (CHEK2) Mutation in Breast Cancer Occurrence in Burkina Faso." Asian Pacific Journal of Cancer Biology 8, no. 2 (July 11, 2023): 135–45. http://dx.doi.org/10.31557/apjcb.2023.8.2.135-145.
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Introduction: The TP53 and CHEK2 genes have been described as breast cancer susceptibility genes and some of their polymorphisms have been associated with an increased risk of breast cancer in certain populations.Aim: The objective of this study was to investigate the p.R72P and PIN3 Ins16bp (TP53) polymorphisms and the I157T (CHEK2) mutation developping of breast cancer. Methods: This case-control study had enrolled 144 participants including 65 cases (breast cancer patients) and 79 controls (women without breast abnormalities) in the city of Ouagadougou in Burkina Faso. The DNA was extracted using the method of “salting out” and the genotyping of polymorphisms was performed by ASO-PCR (Allele Specific Oligonucleotides - Polymerase Chain Reaction), conventional PCR and PCR-RFLP (Polymerase Chain Reaction - Restriction Fragment Length Polymorphism) techniques. Results: The heterozygous genotype (RP) of the p.R72P polymorphism of TP53 gene was in the majority in cases (73.85%) and controls (73.42%). Regarding to the PIN3 Ins16bp polymorphism of TP53 gene, the homozygous wild type (A1A1) was the most represented in both cases (53.85%) and controls (60.76%). Concerning the I157T mutation of CHEK2 gene, only one (01) patient was homozygous mutant (TT) and no controls had the mutation. This study found no association between these polymorphisms and the risk of breast cancer occurrence (p.R72P (OR=0.96; 95%IC (0.59-1.56); p=0.471), PIN3 Ins16bp (OR= 1.1; 95%IC (0.61-1.98); p=0.420)). Conclusion: This study showed that the P allele of the p.R72P polymorphism and the wild-type allele (A1) of the PIN3 Ins16bp polymorphism were in the majority. The I157T mutation was very rare. These polymorphisms were not associated with the risk of developing breast cancer in this study.
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Ignatenko, Grigory A., Natalia A. Reznichenko, Pavel N. Fedulichev, Eduard A. Maylyan, and Zaira F. Kharaeva. "Polymorphisms of genes of interleukin-6 and alpha-1 chain of collagen type 1 in postmenopausal women with knee osteoarthritis." Medical academic journal 23, no. 3 (March 29, 2024): 31–40. http://dx.doi.org/10.17816/maj375358.
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BACKGROUND: To date in the Russian Federation insufficient attention has been paid to the study of IL6 and COL1A1 gene polymorphisms role in the development of knee osteoarthritis. And the results of the single carried out to date studies, devoted to the research of polymorphic variants of the above genes influence on the osteoarthritis development, are insufficient for substantiated conclusions.
 AIM: To study the frequency of alleles and genotypes of the IL6 gene rs1800795 polymorphism and COL1A1 gene rs1107946 and rs1800012 polymorphisms in postmenopausal women with knee osteoarthritis.
 MATERIALS AND METHODS: The results of 157 postmenopausal women survey with knee osteoarthritis were selected and analyzed. The control group consisted of 326 women of the same age without signs of joint disease. The study of polymorphisms rs1800795, rs1107946 and rs1800012 was performed by real-time polymerase chain reaction.
 RESULTS: The conducted studies showed that in the general group of examined women the frequency of all three studied polymorphisms genotypes registration corresponded to the Hardy-Weinberg law. An uneven (p = 0.043) distribution of rs1800795 polymorphism genotypes was found in the group of women with osteoarthritis and in the control group in the study of the IL6 gene polymorphic variants frequency detection. This difference was due to more frequent GG genotype registration of the above polymorphism (odds ratio = 1.75; 95% confidence interval: 1.12–2.72; p = 0.021) among women with knee osteoarthritis. Associations of rs1107946 and rs1800012 COL1A1 gene polymorphisms were not found (p 0.05).
 CONCLUSIONS: An association between GG genotype of the IL6 gene rs1800795 polymorphism and knee osteoarthritis in postmenopausal women has been established. Genotypes and alleles of COL1A1 gene rs1107946 and rs1800012 polymorphisms were not associated with joint disease.
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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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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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LEE, YOUNG HO, JONG DAE JI, and GWAN GYU SONG. "Association Between Interleukin 1 Polymorphisms and Rheumatoid Arthritis Susceptibility: A Metaanalysis." Journal of Rheumatology 36, no. 1 (January 2009): 12–15. http://dx.doi.org/10.3899/jrheum.080450.
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Objective.To determine whether interleukin 1 (IL-1) polymorphisms confer susceptibility to rheumatoid arthritis (RA).Methods.We conducted metaanalyses on associations between IL-1 polymorphisms and RA susceptibility, using fixed or random effects models.Results.A total of 18 separate comparisons were made using 10 European, 7 Asian, and 1 Latin American population samples. Metaanalysis of the IL-1B+3954 CC genotype revealed an association with RA in all subjects (odds ratio = 0.776, 95% confidence interval = 0.609–0.988, p = 0.040). In Asians, an association between IL-1B+3954 and RA was identified. In contrast, no association was found between the IL-1B+3954 polymorphism and RA susceptibility in European populations. Metaanalyses of the IL-1B-511 and IL-1RN VNTR polymorphisms identified no association between these polymorphisms and RA.Conclusion.Our metaanalysis shows that the IL-1B+3954 polymorphism was associated with the development of RA, but only in Asians.
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Kuessel, Lorenz, Christoph Grimm, Martin Knöfler, Peter Haslinger, Heinz Leipold, Georg Heinze, Christian Egarter, and Maximilian Schmid. "Common Oxytocin Receptor Gene Polymorphisms and the Risk for Preterm Birth." Disease Markers 34, no. 1 (2013): 51–56. http://dx.doi.org/10.1155/2013/798914.
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Oxytocin is crucially involved in the onset and maintenance of labor. We investigated the association between oxytocin receptor gene polymorphisms and preterm birth. The presence of four common oxytocin receptor gene polymorphisms (rs2254298, rs53576, rs2228485 and rs237911) was evaluated in one hundred women with preterm birth and one hundred healthy women using restriction fragment length polymorphism genotyping. No association was found between the presence of any individual oxytocin receptor gene polymorphism and preterm birth. In haplotype analysis, the haplotype combination of rs2254298 A allele, rs2228485 C allele and rs237911 G allele was found to be significantly associated with an increased risk of preterm birth (OR = 3.2 [CI 1.04–9.8],p= 0.043). In conclusion our findings suggest that a combination of three oxytocin receptor gene polymorphisms is associated with an increased risk for preterm birth. We propose further studies investigating the role of oxytocin receptor gene polymorphisms and preterm birth.
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Angelova, Lyudmila, Maria Tsvetkova, and Mariya Levkova. "CHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE." Journal of IMAB - Annual Proceeding (Scientific Papers) 27, no. 4 (December 2, 2021): 4133–38. http://dx.doi.org/10.5272/jimab.2021274.4133.
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Chromosomal polymorphism is described as normal variants at chromosomal regions with no impact on the phenotype but a possible correlation to infertility and recurrent spontaneous abortions. The aim of this study was to evaluate the effect of the chromosomal polymorphisms involved in families with reproductive failures in the Bulgarian population. Material and methods: A total of 1733 patients with unexplained reproductive failures who visited the Laboratory of Medical Genetics – Varna, Bulgaria, (2004 - 2019) were investigated by conventional cytogenetic analysis GTG and CBG differential banding techniques and analyzed at the resolution 400-550 GTG bands. Results: Chromosomal polymorphisms were found in 173 infertile patients (9,98%). The sex distribution was 6,52% males and 3,46% females. The most frequent finding was inv(9)(qh) (23,7%). The other chromosomal variants, which were found, consisted: 9qh+/- variants (15,1%); polymorphisms on the short arms of the acrocentric chromosomes (21,4%); 16qh+ (12,7%) and 1qh+ (6,9%). Y chromosome polymorphism was found in 27,4% of the males with polymorphisms. Two rare cases of polymorphism involving the centromere regions - 19qcenh+ and 20pcenh+ were also found. Conclusion: There is growing evidence that polymorphisms may have a clinical impact on fertility and could take part in the etiology of RF. In this study, we found a significantly high percentage of polymorphisms (9,98%) among the tested patients, and they were more common among males. The statistical significance of increased incidence of chromosome variations found in our study emphasizes the need for routine evaluation of their role in families with RF in our country.
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Gao, Yue, Qingbo Wang, Junhua Wu, Yang Liu, Xin Wang, Yanhui Gao, and Yanmei Yang. "Interactions Between BMP2/BMP4 Gene Polymorphisms and Fluoride Exposure on Essential Hypertension: A Cross-Sectional Study in China." Toxics 13, no. 2 (February 8, 2025): 126. https://doi.org/10.3390/toxics13020126.
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(1) Objective: To evaluate the relationship between fluoride exposure, interactions of BMP2/BMP4 gene polymorphisms, and fluoride exposure on essential hypertension. (2) Methods: A cross-sectional study was conducted among 725 participants in a high-fluoride region of Shanxi Province, China. Urinary fluoride concentrations were measured as indicators of fluoride exposure. Hypertension was diagnosed based on standard guidelines. BMP2 (rs1005464) and BMP4 (rs17563) polymorphisms were genotyped. Logistic regression and interaction models were performed to evaluate associations and interactions between fluoride exposure, gene polymorphisms, and hypertension. (3) Results: Higher urinary fluoride concentrations were significantly associated with an increased risk of hypertension, exhibiting a dose-dependent relationship. The rs1005464 (G > A) polymorphism of BMP2 was identified as a protective factor against hypertension in individuals with the AG + AA genotype. Significant interactions were observed between the BMP2 rs1005464 and BMP4 rs17563 polymorphisms, influencing hypertension risk. Additionally, both multiplicative and additive interactions between high fluoride exposure and the BMP4 rs17563 polymorphism were identified, highlighting the combined impact of environmental and genetic factors on hypertension. (4) Conclusions: Fluoride exposure is positively associated with hypertension. BMP2 gene polymorphisms affect the risk of hypertension, and BMP4 gene polymorphisms may modify the impact of fluoride on hypertension.
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Krishna, B., Samir Jana, Aditya Panda, David Horne, Sanjay Awasthi, Ravi Salgia та Sharad Singhal. "Association of TGF-β1 Polymorphisms with Breast Cancer Risk: A Meta-Analysis of Case–Control Studies". Cancers 12, № 2 (18 лютого 2020): 471. http://dx.doi.org/10.3390/cancers12020471.
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Reports on the association of TGF-β1 polymorphisms with breast cancer (BC) have been conflicting, inconsistent, inconclusive, and controversial. PubMed, EMBASE, and Google Scholar were used to identify studies on TGF-β1 polymorphisms and BC risk. Data were extracted independently, and of the initial 3043 studies, 39 case-control studies were eligible for inclusion in the meta-analysis. Information from these studies was extracted, and the overall associations of three TGF-β1 polymorphisms (TGF-β1 29>T/C, TGF-β1-509 C/T, and TGF-β1*6A) with BC risk were analyzed using overall allele, homozygous, heterozygous, recessive, and dominant models. None of the three TGF-β1 polymorphisms studied had a significant influence on the development of BC. However, stratified analysis revealed a positive correlation between the TGF-β1 29T>C polymorphism and BC risk according to a heterozygous model of the Asian population (odds ratio (OR) = 1.115, 95% confidence interval (CI) = 1.006–1.237, p = 0.039). Interestingly, this polymorphism was associated with lower odds of BC according to a heterozygous model of the Middle Eastern population (OR = 0.602, 95% CI = 0.375–0.966, p = 0.035). Thus, our analysis of large datasets indicates that the TGF-β1 29T>C polymorphism is significantly associated with BC risk in the Asian population. In contrast, the TGF-β1*6A and TGF-β1-509 C/T polymorphisms failed to show an association with BC.
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Lee, Hwa-Young, Rhee-Hun Kang, Sang-Woo Han, Jong-Woo Paik, Hun Soo Chang, Yoo Jung Jeong, and Min-Soo Lee. "Association of glucocorticoid receptor polymorphisms with the susceptibility to major depressive disorder and treatment responses in Korean depressive patients." Acta Neuropsychiatrica 21, no. 1 (February 2009): 11–17. http://dx.doi.org/10.1111/j.1601-5215.2008.00342.x.
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Objective:Major depressive disorder (MDD) is closely related to stress reactions and serotonin probably underpins the pathophysiology of MDD. Alterations of the hypothalamic-pituitary-adrenal axis at the gene level have reciprocal consequences on serotonin neurotransmission. Glucocorticoid receptor (GR) polymorphisms affect glucocorticoid sensitivity, which is associated with cortisol feedback effects. Therefore, we hypothesised that GR polymorphisms are associated with the susceptibility to MDD and predict the treatment response.Method:Ninety-six subjects with a minimum score of 17 on the 21-item Hamilton Depression Scale (HAMD) at baseline were enrolled into the present study. The genotypes of GR (N363S, ER22/23EK, Bcl1, and TthIII1 polymorphisms) were analysed. The HAMD score was again measured after 1, 2, 4 and 8 weeks of antidepressant treatment to detect whether the therapeutic effects differed with the GR genotype.Results:Our subjects carried no N363S or ER22/23EK genetic polymorphisms and three types of Bcl1 and TthIII1 genetic polymorphisms. The C/C genotype and C allele at Bcl1 polymorphism were more frequent in MDD patients than in normal controls (p < 0.01 and p = 0.01, respectively). The genotype distributions did not differ significantly between responders and non-responders.Conclusion:These results suggest that GR polymorphism cannot predict the therapeutic response after antidepressant administration. However, GR polymorphism (Bcl1) might play a role in the pathophysiology of MDD. Future studies should check this finding in larger populations with different characteristics.
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Zhou, Xiaoyang, Jianfeng Huang, Jianhong Chen, Shaoyong Su, Runsheng Chen, and Dongfeng Gu. "Haplotype analysis of the matrix metalloproteinase 3 gene and myocardial infarction in a Chinese Han population." Thrombosis and Haemostasis 92, no. 10 (2004): 867–73. http://dx.doi.org/10.1160/th04-03-0192.
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SummaryMatrix metalloproteinase (MMP) 3 plays an important role in the pathogenesis of myocardial infarction (MI). Up to now, there has been conflicting data regarding the possible contribution of the MMP3 -1612 5A/6A promoter polymorphism to MI. In this study, we have investigated the possible association of three polymorphisms (-1612 5A/6A, -376C/G, Glu45Lys) in the MMP3 gene with MI in a Chinese Han population. The polymorphisms were analyzed in 509 patients with MI, and in 518 healthy controls. The frequency of the 5A allele was 14% in the healthy controls, which is less than in Western populations (40%-52%). Logistic regression analyses of individual polymorphisms indicated that individuals carrying the -1612 5A allele had an increased risk of MI (odds ratio [OR] 1.75, 95% confidence interval [CI] 1.28 to 2.40), as did those carrying the -376 G allele (OR 1.78, 95% CI 1.33 to 2.38). The three polymorphisms studied were found to be in strong linkage disequilibria. Haplotype analyses showed that the 5A-G-Lys haplotype (-1612 5A, -376G and 45Lys) was independently associated with susceptibility to MI. Taken together, the effect of the MMP3 polymorphisms studied may be attributable to the -1612 5A/6A polymorphism. We conclude that the MMP3 -1612 5A/6A polymorphism is associated with MI in our population, implying that individuals of the 5A allele carriers have an increased risk of suffering MI.
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Veiga, Luísa, José Silva-Nunes, Alice Melão, Ana Oliveira, Leone Duarte, and Miguel Brito. "Q192R polymorphism of the paraoxonase-1 gene as a risk factor for obesity in Portuguese women." European Journal of Endocrinology 164, no. 2 (February 2011): 213–18. http://dx.doi.org/10.1530/eje-10-0825.
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IntroductionObesity became a major public health problem as a result of its increasing prevalence worldwide. Paraoxonase-1 (PON1) is an esterase able to protect membranes and lipoproteins from oxidative modifications. At the PON1 gene, several polymorphisms in the promoter and coding regions have been identified. The aims of this study were i) to assess PON1 L55M and Q192R polymorphisms as a risk factor for obesity in women; ii) to compare PON1 activity according to the expression of each allele in L55M and Q192R polymorphisms; iii) to compare PON1 activity between obese and normal-weight women.Materials and methodsWe studied 75 healthy (35.9±8.2 years) and 81 obese women (34.3±8.2 years). Inclusion criteria for obese subjects were body mass index ≥30 kg/m2 and absence of inflammatory/neoplasic conditions or kidney/hepatic dysfunction. The two PON1 polymorphisms were assessed by real-time PCR with TaqMan probes. PON1 enzymatic activity was assessed by spectrophotometric methods, using paraoxon as a substrate.ResultsNo significant differences were found for PON1 activity between normal and obese women. Nevertheless, PON1 activity was greater (P<0.01) for the RR genotype (in Q192R polymorphism) and for the LL genotype (in L55M polymorphism). The frequency of allele R of Q192R polymorphism was significantly higher in obese women (P<0.05) and was associated with an increased risk of obesity (odds ratio=2.0 – 95% confidence interval (1.04; 3.87)).ConclusionL55M and Q192R polymorphisms influence PON1 activity. The allele R of the Q192R polymorphism is associated with an increased risk for development of obesity among Portuguese Caucasian premenopausal women.
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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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Aniulis, Povilas, Aurelija Podlipskyte, Alina Smalinskiene, Rosita Aniuliene, and Mindaugas Jievaltas. "Association of gene polymorphisms with women urinary incontinence." Open Medicine 16, no. 1 (January 1, 2021): 1190–97. http://dx.doi.org/10.1515/med-2021-0332.
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Abstract Aim of study was set to investigate the association of women urinary incontinence (UI) with serotonin receptor HTR2A T102C and beta 3-adrenergic receptor ADRB3 Trp64Arg genes polymorphisms. The study included 110 women with Urge, Stress, and Mixed UI types and the control group – 105 continent women. Both groups have filled in the ICIQ-FLUTS questionnaire and their blood genotyping was performed. Urge UI subgroup was older and had higher body mass index (BMI) in comparison to other UI types and control group. More than half of all women had family history of UI in Stress UI and Mixed UI subgroups. The frequency of HTR2A T102C gene polymorphism’s minor allele C and genotype CC was significantly more expressed in Urge UI subgroup, as compared with control group (C-77.3 vs 58.7%, p = 0.007 and CC-57.6 vs 31.1%, p = 0.015). The ADRB3 Trp64Arg gene polymorphism did not differ between groups. The regression analysis revealed CC genotype (OR = 3.06, 95% CI: 1.11–8.43; p = 0.030) and allele C (OR = 2.53, 95% CI: 1.16–5.53; p = 0.020) were risk factors for development of Urge UI. We conclude that HTR2A T102C gene polymorphism affected the development of Urge UI.
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Binaei, Saeed, Sahar M. Rashed та Michael L. Christensen. "β2-Adrenoreceptor Polymorphisms in Asthmatic Patients". Journal of Pediatric Pharmacology and Therapeutics 8, № 1 (1 січня 2003): 22–28. http://dx.doi.org/10.5863/1551-6776-8.1.22.
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β2-adrenergic receptors (β2AR) are GTP-binding protein (G-protein) coupled receptors widely distributed in human tissue. Inhaled β2-agonist drugs exert their primary effect on the β2AR of bronchial smooth muscles, causing relaxation and bronchial dilatation. Polymorphisms in the β2AR gene have been identified, which may affect responsiveness to β2-agonists and disease severity in asthmatics. Nine single nucleotide polymorphisms (SNPs) within the coding region and eight SNPs within in the 5′ upstream region of the β2AR gene have been identified. The two most studied polymorphisms are mutations in the coding region at codon 16, Arg to Gly (Arg16Gly) and at codon 27, Gln to Glu (Gln27Glu). Evidence suggests that carriers of Gly16, as well as carriers of Gln27, are prone to down-regulation of β2AR. Patients who are homozygous for Arg16 and/or Glu 27 may be more susceptible to tachyplaxis with chronic use of β2-agonists. Although β2AR polymorphism is not related to the severity of asthma, patients with nocturnal asthma have higher frequency of Gly16. A polymorphism in the 5′ upstream region, 5′ leader cistron (5′LC), encodes for a protein that regulates mRNA transcription. The Cys19 polymorphism in the 5′LC is associated with higher expression of β2AR. More recent studies have focused on combinations of polymorphisms across the gene region (haplotypes). The interaction of multiple SNPs within a haplotype may control β2AR function resulting in different phenotypic response in patients with asthma. β2AR polymorphism may have a significant implication in the pathophysiology of asthma and therapeutic response.
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Cakina, Suat, Ozgul Ocak, Adile Ozkan, Selma Yucel, and Handan Isin Ozisik Karaman. "Vitamin D receptor gene polymorphisms in multiple sclerosis disease: A case-control study." Revista Romana de Medicina de Laborator 26, no. 4 (October 1, 2018): 489–95. http://dx.doi.org/10.2478/rrlm-2018-0028.
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Abstract Multiple sclerosis (MS) is a common neurologic disorder that is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS). Its etiology remains unknown. Several recent studies have found that decreased susceptibility to vitamin D deficiency is also associated with a decreased risk of MS. The role of vitamin D receptor (VDR) gene and its polymorphisms are highlighted as susceptible components. In this study, we aimed to identify the relationship between ApaI (rs7975232), BsmI (rs 1544410), and TaqI (rs731236) gene polymorphisms with MS. ApaI, BsmI, and TaqI genotypes were determined in 70 patients with MS and in 70 control subjects. DNA was isolated from blood samples, and then ApaI, BsmI and TaqI gene polymorphisms were identified using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The distribution of BsmI and TaqI polymorphisms did not show any significant differences in MS patients and controls; however, increased A allele of ApaI polymorphism was found in MS patients. Our findings suggest that the ApaI gene polymorphism might be associated with MS. Investigation of a larger population and functional work on these gene structures and function in MS patients are recommended.