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Guzmán-Ornelas, Milton-Omar, Marcelo Heron Petri, Mónica Vázquez-Del Mercado, Efraín Chavarría-Ávila, Fernanda-Isadora Corona-Meraz, Sandra-Luz Ruíz-Quezada, Perla-Monserrat Madrigal-Ruíz, Jorge Castro-Albarrán, Flavio Sandoval-García i Rosa-Elena Navarro-Hernández. "CCL2 Serum Levels and Adiposity Are Associated with the Polymorphic Phenotypes -2518A on CCL2 and 64ILE on CCR2 in a Mexican Population with Insulin Resistance". Journal of Diabetes Research 2016 (2016): 1–11. http://dx.doi.org/10.1155/2016/5675739.
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Genetic susceptibility has been described in insulin resistance (IR). Chemokine (C-C motif) ligand-2 (CCL2) is overexpressed in white adipose tissue and is the ligand of C-C motif receptor-2 (CCR2). TheCCL2G-2518A polymorphism is known to regulate gene expression, whereas the physiological effects of theCCR2Val64Ile polymorphism are unknown. The aim of the study is to investigate the relationship between these polymorphisms with soluble CCL2 levels (sCCL2), metabolic markers, and adiposity. In a cross-sectional study we included 380 Mexican-Mestizo individuals, classified with IR according to Stern criteria. Polymorphism was identified using PCR-RFLP/sequence-specific primers. Anthropometrics and metabolic markers were measured by routine methods and adipokines and sCCL2 by ELISA. The CCL2 polymorphism was associated with IR (polymorphicA+phenotype frequencies were 70.9%, 82.6%, in individuals with and without IR, resp.). Phenotype carriers CCL2 (A+) displayed lower body mass and fat indexes, insulin and HOMA-IR, and higher adiponectin levels. Individuals with IR presented higher sCCL2 compared to individuals without IR and was associated with CCR2 (Ile+) phenotype. The double-polymorphic phenotype carriers (A+/Ile+) exhibited higher sCCL2 than double-wild-type phenotype carriers (A−/Ile−). The present findings suggest that sCCL2 production possibly will be associated with the adiposity and polymorphic phenotypes ofCCL2andCCR2, in Mexican-Mestizos with IR.
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Troitskaya, N. I., K. G. Shapovalov i V. A. Mudrov. "Analysis of the association of polymorphisms of genes markers functions of endothelium and vascular-plate hemostasis with development of diabetic foot syndrome". Acta Biomedica Scientifica 6, nr 4 (17.10.2021): 18–26. http://dx.doi.org/10.29413/abs.2021-6.4.2.
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The aim. To study the prevalence of various combinations of polymorphic variants of genes markers of endothelial function and vascular-platelet hemostasis in the development of diabetic foot syndrome.Materials and methods. In 198 patients with uncomplicated diabetes mellitus and 199 patients with diabetic foot syndrome, the frequency of polymorphic variants of the NOS 786C>T, END1 Lys198Asn, ITGB3 1565T>C (Leu33Pro), F5 1691G>A, F2 20210G>A, MMP9 8202A>G, MTHFR 1298A>C, VEGFA-634C>G genes was studied. Using binary logistic regression analysis, the relationship of various combinations of polymorphisms of the studied genes with the development of diabetic foot was assessed.Results. In diabetic foot syndrome, the most significant contribution is made by the combination of polymorphic variants of the ITGB3 1565T>C (Leu33Pro) and MTHFR 1298A>C genes. With the development of this complication of diabetes mellitus, a combination of the 1565 TC polymorphism of gene ITGB3 and the 1298AA polymorphism of gene MTHFR is 2.1 times more common. The association of the 1565TT polymorphism of gene ITGB3 and the 1298AC polymorphism of gene MTHFR is 2 times more common in diabetes mellitus without complications.Conclusion. The combination of the 1565TС polymorphism of gene ITGB3 and the 1298АА polymorphism of gene MTHFR is associated with the risk of developing a diabetic foot and increases the risk of developing this complication by 2.4 times. The presence of a combination of the 1565TT polymorphisms of gene ITGB3 and the 1298AC polymorphism of gene MTHFR is more common in uncomplicated diabetes mellitus, which suggests its protective effect against the development of diabetic foot syndrome.
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Holland, J. B., S. J. Helland, N. Sharopova i D. C. Rhyne. "Polymorphism of PCR-based markers targeting exons, introns, promoter regions, and SSRs in maize and introns and repeat sequences in oat". Genome 44, nr 6 (1.12.2001): 1065–76. http://dx.doi.org/10.1139/g01-110.
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Sequence databases could be efficiently exploited for development of DNA markers if it were known which gene regions reveal the most polymorphism when amplified by PCR. We developed PCR primer pairs that target specific regions of previously sequenced genes from Avena and Zea species. Primers were targeted to amplify 40 introns, 24 exons, and 23 promoter regions within 54 maize genes. We surveyed 48 maize inbred lines (previously assayed for simple-sequence repeat (SSR) polymorphism) for amplification-product polymorphism. We also developed primers to target 14 SSRs and 12 introns within 18 Avena genes, and surveyed 22 hexaploid oat cultivars and 2 diploid Avena species for amplification-product polymorphism. In maize, 67% of promoter markers, 58% of intron markers, and 13% of exon markers exhibited amplification-product polymorphisms. Among polymorphic primer pairs in maize, genotype diversity was highest for SSR markers (0.60) followed by intron markers (0.46), exon markers (0.42), and promoter markers (0.28). Among all Avena genotypes, 64% of SSR markers and 58% of intron markers revealed polymorphisms, but among the cultivars only, 21% of SSR markers and 50% of intron markers were polymorphic. Polymorphic-sequence-tagged sites for plant-breeding applications can be created easily by targeting noncoding gene regions.Key words: Avena, Zea, genetic diversity, DNA sequence.
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Leus, Frank, Bonno Bouma, Herman van Rijn i Janke Prins. "The Identification of Polymorphisms in the Coding Region of the Apolipoprotein (a) Gene". Thrombosis and Haemostasis 82, nr 12 (1999): 1709–17. http://dx.doi.org/10.1055/s-0037-1614903.
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SummaryLipoprotein (a) [Lp(a)] is a quantitative genetic trait in human plasma and elevated levels represent a major inherited risk factor for the development of atherosclerotic disease. In our search for sequence polymorphisms in the coding region of the apolipoprotein(a) [apo(a)] gene that may affect the Lp(a) concentration, four new polymorphic sites were identified. These include two coinciding polymorphisms with an allele frequency of 38% located at amino acid positions 87 and 101 (Leu87,101 →Val) in the interkringle region of kringle IV (K.IV) type 7 and two polymorphisms located in K.IV type 7 (Arg60 →Ser) and in K.IV type 10 (Tyr2 →Phe) both with estimated allele frequencies of about 1%.The linkage between the newly identified K.IV type 7 Leu87,101 →Val polymorphism and earlier described polymorphic sites in the non-coding and coding regions of the apo(a) gene, its distribution over the apo(a) isoform sizes and its possible influence on the Lp(a) concentration was analysed in 201 healthy unrelated Caucasians. The earlier described polymorphic sites included in this study were the variable number of a TTTTA pentanucleotide repeat (7-11 PNR) starting at -1231 bp, the -772 bp G/A polymorphism, the +93 bp C/T polymorphism and the +121 bp G/A polymorphism in the non-coding region, and the K.IV type 8 Thr12/Pro polymorphism and the K.IV type 10 Thr66/Met polymorphism in the coding region of the apo(a) gene.Linkage disequilibria were observed between the polymorphic sites in the 5’ non-coding region and the sites in K.IV type 7 and 8 in the coding region of the apo(a) gene, confirming that the expansion of the variable number of K.IV type 2 repeats results from intrachromosomal recombinational events. The distribution over the apo(a) isoform sizes of the K.IV type 7 Val87,101 subtype was not significantly different from that of the K.IV type 7 Leu87,101 wild-type, suggesting a relative ancient mutational event. No influence of the K.IV type 7 Leu87,101 →Val polymorphism on the Lp(a) level was observed. In fact, of all the polymorphic sites studied, only the +121 A subtype could be associated with an increased, and the K.IV type 8 Pro12 and the 10 PNR subtypes with a reduced, Lp(a) concentration corrected for apo(a) isoform size (p <0.05).
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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 i 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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Takahashi, Yuma, i Suzuki Noriyuki. "Colour polymorphism influences species' range and extinction risk". Biology Letters 15, nr 7 (lipiec 2019): 20190228. http://dx.doi.org/10.1098/rsbl.2019.0228.
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Polymorphisms in a population are expected to increase the growth rate and the stability of the population, leading to the expansion of geographical distribution and mitigation of extinction risk of a species. However, the generality of such ecological consequences of colour polymorphism remains uncertain. Here, via a comparative approach, we assessed whether colour polymorphisms influence climatic niche breadth and extinction risk in some groups of damselflies, butterflies and vertebrates. The climatic niche breadth was greater, and extinction risk was lower in polymorphic species than in monomorphic species in all taxa analysed. The results suggest that colour polymorphism facilitates range expansion and species persistence.
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Wróbel-Dudzińska, Dominika, Ewa Kosior-Jarecka, Urszula Łukasik, Janusz Kocki, Agnieszka Witczak, Jerzy Mosiewicz i Tomasz Żarnowski. "Risk Factors in Normal-Tension Glaucoma and High-Tension Glaucoma in relation to Polymorphisms of Endothelin-1 Gene and Endothelin-1 Receptor Type A Gene". Journal of Ophthalmology 2015 (2015): 1–12. http://dx.doi.org/10.1155/2015/368792.
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The aimof the research is to analyse the influence of polymorphisms of endothelin-1 gene and endothelin-1 receptor type A gene on the clinical condition of patients with primary open angle glaucoma.Methods. 285 Polish patients took part in the research (160 normal-tension glaucoma and 125 high-tension glaucoma). DNA was isolated by standard methods and genotype distributions of four polymorphisms in genes encoding endothelin-1 (K198N) and endothelin-1 receptor type A polymorphisms (C1222T, C70G, and G231A) were determined. Genotype distributions were compared between NTG and HTG groups. The clinical condition of participants was examined for association with polymorphisms.Results. A similar frequency of occurrence of the polymorphic varieties of the studied genes was observed in patients with NTG and HTG. There is no relation between NTG risk factors and examined polymorphisms. NTG patients with TT genotype of K198N polymorphism presented with the lowest intraocular pressure in comparison to GG + GT genotype (p=0.03). In NTG patients with CC genotype of C1222T polymorphism (p=0.028) and GG of C70G polymorphism (p=0.03) the lowest values of mean blood pressure were observed.Conclusions. The studied polymorphic varieties (K198N, C1222T) do have an influence on intraocular pressure as well as arterial blood pressure in NTG patients.
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Ignatenko, Grigory A., Natalia A. Reznichenko, Pavel N. Fedulichev, Eduard A. Maylyan i 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, nr 3 (29.03.2024): 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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Saleh, Muhammad Irsan, Rizki Andini Nawawi i Subandrate Subandrate. "POLYMORPHISMS OF THE PROGESTERONE RECEPTOR GENE IN ENDOMETRIOSIS PATIENTS OF SOUTH SUMATRA, INDONESIA". Jurnal Kedokteran dan Kesehatan : Publikasi Ilmiah Fakultas Kedokteran Universitas Sriwijaya 9, nr 2 (9.05.2022): 213–18. http://dx.doi.org/10.32539/jkk.v9i2.17508.
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Polymorphisms of the progesterone receptor gene alter the expressions of two receptor isoforms involved in the regulation of progesterone's antiproliferative effect in endometriotic tissue. This study aims to identify the +331G/A polymorphism of the progesterone receptor gene in endometriosis patients in Palembang, South Sumatra. Identification of +331G/A single-nucleotide polymorphism (SNP) was conducted on 42 endometriosis patients through polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). In this study, twenty-six (61.9%) subjects had heterozygous mutant genotype for the +331G/A SNP. No subject with homozygous mutant genotype for the +331G/A polymorphism was identified. The frequencies of polymorphic alleles for the +331G/A polymorphism was 30.9%. In conclusion, the +331G/A progesterone receptor gene polymorphism was present in endometriosis patients in Palembang, South Sumatra. This finding may warrant further studies to determine whether this polymorphism play a role in the development of endometriosis in the Indonesian population.
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Ravel, Catherine, Sébastien Praud, Alain Murigneux, Aurélie Canaguier, Frédéric Sapet, Delphine Samson, François Balfourier i in. "Single-nucleotide polymorphism frequency in a set of selected lines of bread wheat (Triticum aestivum L.)". Genome 49, nr 9 (wrzesień 2006): 1131–39. http://dx.doi.org/10.1139/g06-067.
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Information on single-nucleotide polymorphisms (SNPs) in hexaploid bread wheat is still scarce. The goal of this study was to detect SNPs in wheat and examine their frequency. Twenty-six bread wheat lines from different origins worldwide were used. Specific PCR-products were obtained from 21 genes and directly sequenced. SNPs were discovered from the alignment of these sequences. The overall sequence polymorphism observed in this sample appears to be low; 64 single-base polymorphisms were detected in ~21.5 kb (i.e., 1 SNP every 335 bp). The level of polymorphism is highly variable among the different genes studied. Fifty percent of the genes studied contained no sequence polymorphism, whereas most SNPs detected were located in only 2 genes. As expected, taking into account a synthetic line created with a wild Triticum tauschii parent increases the level of polymorphism (101 SNPs; 1 SNP every 212 bp). The detected SNPs are available at http://urgi.versailles.inra.fr/GnpSNP . Data on linkage disequilibrium (LD) are still preliminary. They showed a significant level of LD in the 2 most polymorphic genes. To conclude, the genome size of hexaploid wheat and its low level of polymorphism complicate SNP discovery in this species.
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Obukhova, Olha A., Viktoriia Yu Harbuzova, Maryna M. Zavadska, Zoia M. Levchenko, Аntonina A. Biesiedina, Yelizaveta A. Harbuzova, Yuliia O. Smiianova i Vladyslav A. Smiianov. "ANALYSIS OF THE BLOOD HYPERCOAGULATION RISK IN PATIENTS WITH ISCHEMIC ATHEROTHROMBOTIC STROKE DEPENDING OF THE VDR GENE POLYMORPHISMS". Polski Merkuriusz Lekarski 51, nr 4 (2023): 334–38. http://dx.doi.org/10.36740/merkur202304106.
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Aim: of our study was the analysis of the blood hypercoagulation risk in patients with ischemic atherotrombotic stroke depending of the VDR gene polymorphisms. Materials and Methods: Blood of 170 patients with ischemic atherothrombotic stroke (IATS) and 124 healthy individuals (control group) was used for genotyping. Four polymorphisms (FokI, BsmI, ApaI, TaqI) of gene VDR were examined with PCR-RFLP methodology. Statistical analysis was performed by using SPSS-17.0 program. Results: Among patients with IATS who are carriers of the f/f genotype, FokI polymorphism of VDR gene by high thrombin time and a decrease in the rate of spontaneous fibrinolysis was registered. In individuals with the B/B genotype homozygous for the polymorphic variant, BsmI had significantly lower mean values of prothrombin and thrombin time and increased the rate of spontaneous fibrinolysis. The homozygotes for the A-allele ApaI polymorphism have 2.7 times higher risk of developing blood hypercoagulation than homozygotes for the a-allele was found. Conclusions: Biochemical signs of hypercoagulation syndrome among patients with IATS who are carriers of the f/f genotype of the FokI polymorphic variant and among B/B homozygotes of the BsmI polymorphic variant and homozygotes for the A-allele of the AрaI polymorphism of the VDR gene were registered.
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Anderson, J. A., G. A. Churchill, J. E. Autrique, S. D. Tanksley i M. E. Sorrells. "Optimizing parental selection for genetic linkage maps". Genome 36, nr 1 (1.02.1993): 181–86. http://dx.doi.org/10.1139/g93-024.
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Genetic linkage maps based on restriction fragment length polymorphisms are useful for many purposes; however, different populations are required to fulfill different objectives. Clones from the linkage map(s) are subsequently probed onto populations developed for special purposes such as gene tagging. Therefore, clones contained on the initial map(s) must be polymorphic on a wide range of genotypes to have maximum utility. The objectives of this research were to (i) calculate polymorphism information content values of 51 low-copy DNA clones and (ii) use the resulting values to choose potential mapping parents. Polymorphism information content was calculated using gene diversity by classifying restriction fragment patterns on a diverse set of 18 wheat genotypes. Combinations of potential parents were then compared by examining both the proportion of polymorphic clones and the likelihood that those mapped clones would give a polymorphism when used on other populations. Genotype pairs were identified that would map more highly informative DNA clones compared with a population derived from the most polymorphic potential parents. The methodologies used to characterize clones and rank potential parents should be applicable to other species and types of markers as well.Key words: restriction fragment length polymorphism, mapping, Triticum aestivum.
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Taran Kyzy, Jafar Aliyev. "Value heterochromatin and polymorphic varian gene folat cycle in women with miscarried and losses of pregnancy". HEALTH OF WOMAN, nr 9(115) (30.11.2016): 148–51. http://dx.doi.org/10.15574/hw.2016.115.148.
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The article presents data from surveys of women of losses of pregnancy (LP) in history, conducted within the medical genetic counseling, given the urgency of specifying genetic factors that actually are in causal connection with the LP specification clinical effects of epigenetic variability. The objective: to clarify the meaning of the changes in women heterochromatin (chromosomal polymorphism) and polymorphic variants of genes folat cycle enzymes as potential risk factors and pathogenic primordial LP. Patients and methods. The study involved two groups of women: I - 154 observations with complicated obstetric history in LP and II - 32 healthy women with uncomplicated reproductive history, held preconception planning to prevent pregnancy. Studied genealogical history, especially of internal organs, genitalia. Special studies included cytogenetic analysis, identification of gene polymorphisms system folat cycle methylentetrahydrofolate reductase [MTHFR] (C677T, A1298C, G1793A); methionine synthase reductase [MTRR] (A66G). Results. Women with a history of LP in 36.4% identified chromosome polymorphisms (SNPs extreme variants of chromosome polymorphism) on the background of various risk alleles of polymorphic variants of genes folat cycle; 7.1% of them is a polymorphism of the 21st chromosome. These genetic features are interpreted as a significant risk factor for LP as grounds for targeted in-depth medical and genetic examination. Prevalence among women with a history of PL undifferentiated forms cjnnective tissue and mesoderm dysplasia, benign tumors and «precancerous» states, as well as the prevalence of cardiovascular and psycho-neurological disease in pedigree suggests pathogenetic link these phenomena, the role of chromosomal polymorphism and polymorphic variants of genes of pathogenic folat cycle as primordial. Conclusion. The data on the place and role of heterochromatin and gene polymorphisms folat cycle in the origin LP should be mandatory option when examining women within the medical genetic counseling. Key words: pregnancy, reproductive losses, chromosomal instability, folat cycle genes, ancestry.
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Shorikov, Eugene I., Olena V. Zaliavska, Dina V. Shorikova, Olga M. Nika, Pavlo E. Shorikov i Oksana S. Khukhlina. "ASSOCIATIONS OF POLYMORPHISMS NOS3-T-786C, MTHFR-C667T, P2RY12-T-744C, (GPIBΑ) -C482T AND GENE INTERACTIONS IN MACROANGIOPATHIES IN PATIENTS WITH COMBINED HYPERTENSION AND TYPE DIABETES MELLITUS 2". Wiadomości Lekarskie 75, nr 4 (2022): 1002–8. http://dx.doi.org/10.36740/wlek20220420115.
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The aim: To establish the role of allelic polymorphisms NOS3-T-786C, MTHFR-C667T, P2RY12--744C, (GPIbα)-C482T in the development of vascular lesions in patients with hypertension and diabetes mellitus type 2. Materials and methods: The study included 100 patients with hypertension and diabetes mellitus type 2 (main group) and 50 patients without type 2 diabetes (control group). Patients underwent echocardiography, color duplex scanning of extracranial, brachiocephalic and femoral vessels. The distribution of allelic polymorphisms was investigated by isolation DNA from leukocytes and polymerase chain reaction (PCR). Results: The risk of vascular damages increases 2-fold when carrying all 4 risk alleles in monozygotic genotypes of polymorphic loci in patients with hypertension with concomitant type 2 diabetes (p<0,05). In gene-gene interaction, the values of contributions and directions of interaction between alleles of polymorphic loci are established (p<0,05). Genes create a paired hierarchy of interaction according to their functional activity; the largest contribution to the probable vascular damage depends on the allelic polymorphism NOS3-786CT (p<0,05), the lowest - on the allelic polymorphism P2RY12-744CC (H2H2). The genetic polymorphism of the MTHFR gene is independent of the influence of other studied polymorphisms (p<0,05); the genes P2RY12-744CT and GPIbα 482CT act synergistically with the gene NOS3-786CT, being in a weak negative interaction with each other. Conclusions: Phenotypic manifestations of endothelial dysfunction may be modified by allelic polymorphism of genes associated with endothelial and platelet functions with the risk of vascular complications.
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Costa, Magdaline, Peter Grant, Gillian Rice, Simon Futers i Robert Medcalf. "Human Endothelial Cell-derived Nuclear Proteins that Recognise Polymorphic DNA Elements in the von Willebrand Factor Gene Promoter Include YY1". Thrombosis and Haemostasis 86, nr 08 (2001): 672–79. http://dx.doi.org/10.1055/s-0037-1616103.
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SummaryFour common base-change polymorphisms have been found in the von Willebrand factor gene promoter: (-1793 C/G, -1234 T/C, -1185 G/A and -1051 A/G). All four polymorphisms are in strong linkage dis-equilibrium and recent reports have indicated these polymorphisms are associated with plasma vWF:Ag levels suggesting that one or more of these elements influence regulation of the vWF gene. We report that human endothelial cell-derived trans-acting factors display allelic preferences in binding activity to each polymorphic site. The common A allele variant of the –1051 polymorphism and the rarer A allele variant of the –1185 polymorphism provided specific binding of nuclear proteins. The G allele counterpart of these two variants did not produce any complex formation indicating that the nucleotide substitution at these positions alters the DNA binding ability of nuclear factors. The two alleles of the –1234 polymorphism produced two complexes with a similar migration pattern however stronger binding was found to the common T variant of this allele. Two specific complexes associated with the rarer G allele of the –1793 polymorphism, but only one associated with the C allele. Supershift experiments revealed that the trans-acting factor YY1 recognised the slower migrating complex formed on the –1234 T/C and the –1051 A polymorphic sites with a strong binding preference for the –1234 T allele variant. The identification of YY1 as a component of the factors that recognise these elements suggests that this ubiquitous nuclear protein may play a role in the regulation of the vWF promoter.
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Woeste, Keith, Gale H. McGranahan i Robert Bernatzky. "Randomly Amplified Polymorphic DNA Loci from a Walnut Backcross [(Juglans hindsii × J. regia) × J. regia]". Journal of the American Society for Horticultural Science 121, nr 3 (maj 1996): 358–61. http://dx.doi.org/10.21273/jashs.121.3.358.
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Twenty-five random decamer primers were used to evaluate the level of polymorphism between Persian walnut and the Northern California black walnut. Sixty-six randomly amplified polymorphic DNA (RAPD) markers were identified using an interspecific walnut backcross population [(Juglans hindsii × J. regia) × J. regia]. Segregation data from these polymorphisms were joined to a previously published set of restriction fragment-length polymorphism (RFLP) marker data to expand the genetic map of walnut to 107 markers in 15 linkage groups.
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Ismayilova, Nergiz, Melis Palamar, Huseyin Onay, Emine Ipek Ceylan, Tahir Atik, Taner Akalin i Ayse Yagci. "Vitamin D receptor gene polymorphisms in ocular surface squamous cell neoplasms". European Journal of Ophthalmology 30, nr 5 (24.06.2019): 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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Afshar-Kharghan, Vahid, Carrol Sun, Hui Zhang, Jennifer Wood, Suzanne Leal, Jing-Fei Dong i Paul F. Bray. "Polymorphism of the α2A-Adrenergic Receptor Gene and Epinephrine-Induced Platelet Aggregation." Blood 104, nr 11 (16.11.2004): 1568. http://dx.doi.org/10.1182/blood.v104.11.1568.1568.
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Abstract The α2A-adrenergic receptor mediates important physiologic responses, such as regulation of blood pressure, control of sympathetic autonomic responses, as well as the platelet response to epinephrine. The gene encoding the α2A-adrenergic receptor is polymorphic. One of the polymorphisms, known as the Dra I polymorphism, is located in the 3′ untranslated region of this gene. The Dra I polymorphism of the α2A-adrenergic receptor is associated with a higher incidence of systemic arterial hypertension among African-Americans. Although the presence of this polymorphism was known by Southern-blot analysis of the human genomic DNA for more than a decade, the exact location and nature of this polymorphism was unknown. We have located the Dra I polymorphism in the 3′ untranslated region of the α2A-adrenergic receptor gene (G1838A) and developed a PCR-based detection method. The allele and haplotype frequencies for polymorphisms of the α2A-adrenergic receptor gene in different ethnic groups were identified. After studying the correlation between epinephrine-induced platelet aggregation and the genotypes for the G1838A polymorphism among 235 human subjects, it was found that the 1838G allele is associated with an increase in the level of platelet aggregation in response to epinephrine among African-Americans, but not among Caucasians or Hispanics. This polymorphism may be responsible for the variability in the epinephrine-induced platelet aggregation among individuals and acts as a risk factor for thrombotic vascular event.
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Kula, Agnieszka, Miriam Dawidowicz, Paweł Świętochowski i Zofia Ostrowska. "Estimation of the influence of genetic polymorphisms of opioid, purinergic and adrenergic receptors on opioid therapies". Postępy Higieny i Medycyny Doświadczalnej 73 (8.05.2019): 189–96. http://dx.doi.org/10.5604/01.3001.0013.1935.
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The main aim of this work was to collect and present the polymorphisms that have been identified and tested and that may potentially have an influence on the effect of analgesic therapies. Opioid drugs are one of the most commonly used painkillers in the treatment of postoperative, neoplastic and post-traumatic pain. Opioid receptors and their types: μ, δ, κ, purinergic and adrenergic receptors contribute to nociceptive stimulation and their modulation. The analgesic effect induced by opioids is dependent on many factors, such as age, sex, body mass and the occurrence of different polymorphic variants of genes encoding opioid, purinergic and adrenergic receptors. Many polymorphisms have been identified within the following genes: OPRM, OPRK, OPRD, ADRB1 and P2RX7, encoding the following receptors: μ, κ, δ, purinergic P2X and β1-adrenergic. The most common polymorphism is the single nucleotide polymorphism (SNP-single nucleotide polymorphism). The occurrence of some polymorphic forms may generate differences in expression and have an impact on the physicochemical properties of receptors, which results in different levels of analgesia in the population and the generation of side effects. The relation between the occurrence of polymorphic variants of the genes of receptors participating in nociceptive stimulation and the increased or reduced demand for opioids necessary to achieve analgesia has been confirmed. Mechanisms in which polymorphisms affect the modification of the anesthetic response to opioids in most cases remain unknown. Further research on opioid, purinergic and adrenergic receptors polymorphisms may improve the effectiveness of opioid therapies by regulating the dose to the patient’s individual pain phenotype, and may reduce the risk of side effects resulting from using too high doses of the drug.
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Sarecka-Hujar, Beata, Ilona Kopyta i Michał Skrzypek. "Lack of Associations Between PAI-1 and FXIII Polymorphisms and Arterial Ischemic Stroke in Children: A Systematic Review and Meta-Analysis". Clinical and Applied Thrombosis/Hemostasis 25 (1.01.2019): 107602961986950. http://dx.doi.org/10.1177/1076029619869500.
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The role of genetic risk factors for ischemic stroke seems to be in particular significance in pediatric patients. Numerous polymorphic variants of genes encoding proteins, that is, plasminogen activator inhibitor as well as coagulation factors, involved in the coagulation cascade may be related to arterial ischemic stroke (AIS) both in adults and children. We performed systematic review and 2 meta-analyses to assess possible correlations between common plasminogen activator inhibitor ( PAI-1) and FXIII polymorphisms and ischemic stroke in children. We searched PubMed to identify available data published before October 2018 using appropriate keywords and inclusion criteria. Finally, 12 case–control studies were included: 8 analyzing PAI-1 polymorphism (600 children with stroke and 2152 controls) and 4— FXIII polymorphism (358 children with stroke and 451 controls). R and Comprehensive Meta-Analysis software were used to analyze the impact of the particular polymorphism in the following models: dominant, recessive, additive, and allelic. No publication bias was observed in both meta-analyses. In case of PAI-1 polymorphism, we observed no relation between 4G4G genotype of 4G allele and ischemic stroke in children. We also demonstrated lack of association between FXIII polymorphism and childhood ischemic stroke. In children with AIS, the PAI-1 and FXIII polymorphisms are not risk factors for the disease.
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Biselli, Joice Matos, Daniela Brumati, Vivian Fernanda Frigeri, Bruna Lancia Zampieri, Eny Maria Goloni-Bertollo i Érika Cristina Pavarino-Bertelli. "A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology". Sao Paulo Medical Journal 126, nr 6 (listopad 2008): 329–32. http://dx.doi.org/10.1590/s1516-31802008000600007.
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CONTEXT AND OBJECTIVE: There is evidence that polymorphisms of genes involved in folate metabolism may be associated with higher risk that mothers may bear a Down's syndrome (DS) child. This study therefore had the objective of investigating the A80G polymorphism of the reduced folate carrier 1 (RFC1) gene and the C776G polymorphism of the transcobalamin 2 (TC2) gene as maternal risk factors for DS among Brazilian women. DESIGN AND SETTING: Analytical cross-sectional study with control group, at Faculdade de Medicina de São José do Rio Preto (Famerp). METHODS: Sixty-seven mothers of DS individuals with free trisomy 21, and 113 control mothers, were studied. Molecular analysis of the polymorphisms was performed by means of the polymerase chain reaction with restriction fragment length polymorphism (PCR-RFLP), followed by electrophoresis on 2% agarose gel. RESULTS: The frequencies of the polymorphic alleles were 0.51 and 0.52 for RFC1 80G, and 0.34 and 0.34 for TC2 776G, in the case and control groups, respectively. Thus, there were no differences between the groups in relation to either the allele or the genotype frequency, for both polymorphisms (P = 0.696 for RFC1 A80G; P = 0.166 for TC2 C776G; P = 0.268 for combined genotypes). CONCLUSION: There was no evidence of any association between the RFC1 A80G and TC2 C776G polymorphisms and the maternal risk of DS in the sample evaluated.
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Ventriglio, A., A. Petito, A. Gentile, G. Vitrani, I. Bonfitto, A. C. Cecere, A. Rinaldi i in. "Pharmacodynamic targets of psychotic patients treated with a long-acting therapy". European Psychiatry 41, S1 (kwiecień 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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Kocabaş, Neslihan Aygün, i Bensu Karahalil. "XRCC1 Arg399Gln Genetic Polymorphism in a Turkish Population". International Journal of Toxicology 25, nr 5 (wrzesień 2006): 419–22. http://dx.doi.org/10.1080/10915810600870567.
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Humans are routinely exposed to mutagenic and carcinogenic chemicals. These chemicals can form DNA adducts in vivo and thus lead to DNA damage. The integrity of most of the so-damaged DNAs is typically restored as a consequence of the action of certain DNA-repairing enzymes. In several DNA repair genes, polymorphisms may result in reduced repair capacity, which has been implicated as a risk factor for various types of cancer. XRCC1 is a base-excision repair protein that plays a central role in the repair of DNA base damage and strand breaks. Amongst the known genetic polymorphisms of the DNA-repair genes, X-ray repair cross-complementing groups 1 and 3 ( XRCC1 and XRCC3) have been studied most commonly. Inconsistent results have been reported regarding the associations between the Arg399Gln (exon 10) polymorphism of XRCC1 and either functional significance or the risk of tobacco-associated cancers. The Gln allele of this polymorphism was associated with higher levels of DNA adducts. Therefore we genotyped one of the polymorphism of XRCC1, Gln allele. The frequency of the polymorphic alleles varies among populations, suggesting an ethnic distribution of genotypes. There has been no information on interindividual variability of Arg399Gln genotype in the Turkish population. Due to the association between the Arg399Gln polymorphism of XRCC1 and the risk of tobacco-associated cancers, we preferred to evaluate the allelic frequencies of Arg399Gln genotype than the other polymorphisms in XRCC1 gene in healthy Turkish population by polymerase chain reaction–restriction fragment polymorphism (PCR-RFLP) analysis to enable to show interindividual differences and compare to other populations.
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Bekovitch, O., E. Bazhenova, N. Vakhrameeva, E. V. Volkova, V. Larionova i E. V. Shlyakhto. "Polymorphisms of renin-angiotensin system genes and endothelial dysfunction in young males with a history of myocardial infarction". "Arterial’naya Gipertenziya" ("Arterial Hypertension") 14, nr 3 (28.06.2008): 239–44. http://dx.doi.org/10.18705/1607-419x-2008-14-3-239-244.
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We studied relationship between renin-angiotensin system (RAS) gene polymorphisms and parameters of endothelial function in males with history of myocardial infarction in young age. We found endothelial dysfunction in these patients. There were no correlations between certain polymorphic genes and risk of myocardial infarction. At the same time, insertion/deletion polymorphism of the angiotensin-converting enzyme gene was associated with more prominent endothelial dysfunction in males with history of myocardial infarction in young age. These data may confirm influence of RAS gene polymorphism on the endothelial dysfunction.
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Akbari, Soheila, Farhad Shahsavar, Babak Khodadadi, Seyyed Amir Yasin Ahmadi, Saber Abbaszadeh i Seyyed Ezatollah Rafiei Alavi. "Association of FOXP3 gene polymorphisms with risk of preeclampsia in Lur population of Iran". Immunopathologia Persa 6, nr 1 (14.12.2019): e03-e03. http://dx.doi.org/10.15171/ipp.2020.03.
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Introduction: Regulatory T lymphocytes have an effective role in induction of immune tolerance and angiogenesis during pregnancy. Differentiation and replication of these lymphocytes from other T cells is controlled by FOXP3 transcriptional factor. FOXP3 gene is polymorphic. Objectives: This study was designed to investigate the role FOXP3 common polymorphisms in susceptibility to preeclampsia in Lur populations of Lorestan province of Iran. Patients and Methods: This study was conducted on three polymorphisms rs2232365 A/G, rs3761548 C/A and rs5902434 del/ATT using polymerase chain reaction with sequence specific primers (PCR SSP). A total of 100 participants were subjected to be studied. Data analysis was done using Fisher’s exact test and multivariate logistic regression. Results: In rs2232365 polymorphism, AA genotype was a risk factor (P=0.002) and AG genotype was a protecting factor (P<0.001). In polymorphism of rs3761548, CA genotype was a risk factor (P=0.036) and AA genotype was a protecting factor (P=0.015). In polymorphism rs5902434, del/del genotype was a risk factor (P=0.013) and del/ATT genotype was a protecting factor (P<0.001). After adjusting the effects of genotypes, CA genotype of rs3761584 polymorphism was considered as an attributable risk factor (P=0.040; odds ratio [OR] =4.19). Conclusion: The present population showed a unique association for the role of FOXP3 polymorphism in susceptibility to preeclampsia in comparison to previous studies.
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Saltykova, I. V., M. B. Freidin, E. Yu Bragina, L. M. Ogorodova i V. P. Puzyrev. "ASSOCIATION OF POLYMORPHISM RS6737848 IN THE SOCS5 GENE WITH BRONCHIAL ASTHMA". Annals of the Russian academy of medical sciences 68, nr 7 (19.07.2013): 53–56. http://dx.doi.org/10.15690/vramn.v68i7.713.
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Aim: to investigate the role of polymorphic variants of immune-response modifying genes in predisposition to asthma. Patients and methods. The analysis of restriction fragments length polymorphism was used to investigate 10 single-nucleotide polymorphisms: IFNG rs2069705, IFNGR2 rs17880053, IL4 rs 2070874, IL4RA rs 1805010, GATA3 rs10905277, TBX21 rs11652969, PIASY rs3760903, PIAS3 rs12756687, STAT5β rs16967593, and SOCS5 rs6737848 in 106 asthma patients and 115 healthy people. Results. The rs6737848 SOCS5 polymorphism was significantly associated with asthma in additive model (р =0,05, OR =0,338, 95%CI 0,158–0,723) and in dominant model (р =0,02, OR =0,284, CI 0,126–0,638). None of the polymorphisms of the studied genes was associated with total IgE levels. Conclusions. This is the first report on the association of rs6737848 SOCS5 with asthma.
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Katagiri, Seiichiro, Tetsuzo Tauchi, Tomohiro Umezu, Kazuhiro Ohtsuki, Kenichi Tadokoro, Yoshinori Yamamoto, Junko H. Ohyashiki i Kazuma Ohyashiki. "High Frequencies Of Switching To 2nd TKIs and Failure To Maintain Standard Imatinib Dose In Japanese CML Patients With BIM Genetic Variants". Blood 122, nr 21 (15.11.2013): 4021. http://dx.doi.org/10.1182/blood.v122.21.4021.4021.
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Abstract Recently, it has been demonstrated that the proapoptotic protein BIM showed a deletion polymorphism at exon 3 in eastern Asian population, and some CML patients with the BIM deletion polymorphism are resistant to imatinib treatment (Ng et al. Nature Medicine, 2012). More recently, a BIM single nucleotide polymorphism (SNP) at exon 8 (c465C>T) has also been found in French CML patients and this SNP is associated with not only imatinib resistance but also the presence of BCR-ABL mutations (Mahon et al. ASH abstract, 2012). We aimed to investigate a possible association between such genetic variations of BIM and clinical manifestation in Japanese CML patients who experienced undetectable minimal residual disease (UMRD: so-called CMR4.5). In this study, we newly analyzed BIM SNP (c465C>T) in 47 CML-UMRD patients with known BIM deletion polymorphism status (Katagiri et al. Br J Haematol, 2013). Twenty normal subjects were used as controls. The frequency of either BIM SNP at exon 8 or BIM deletion polymorphism did not deviate from the normal subjects in the Japanese population (P = 0.7597 and P = 0.2880, respectively). None of the subjects showed both BIM SNP at exon 8 and BIM deletion polymorphism concomitantly. We then compared the clinical features among 3 CML-UMRD groups: patients with BIM SNP, patients with BIM deletion polymorphism, and patients who showed neither BIM SNP nor BIM deletion polymorphism (no genetic variations). The frequency of CML patients who maintained 400 mg imatinib dose until stopping was significantly higher in those without genetic variations than in those with BIM SNP or BIM deletion polymorphism (P = 0.0002). Moreover, the frequency of CML patients who switched to second tyrosine kinase inhibitors (2nd TKIs) was significantly higher in those with BIM SNP or BIM deletion polymorphism than in those without such polymorphisms (P = 0.0055).Number of CML patientsMaintained IM 400 mgChange of imatinib dose2nd TKIs switchingBIM SNP (c465C>T)11/474/115/112/11BIM deletion polymorphism6/471/63/62/6BIM SNP or deletion polymorphism17/475/178/174/17No BIM genetic variationss30/4725/305/300/30 This is apparently the first study to circumstantiate the BIM genetic variants in Japanese CML patients with UMPD. Although the number of patients is small, our results suggest that CML patients without BIM deletion polymorphism/SNP could be maintained under standard imatinib dose without switching to 2nd TKIs, and thereby, have a possibility to stop TKIs therapy. Disclosures: Ohyashiki: Norvartis KK: Research Funding, Speakers Bureau; Bristol Meyer Squibe KK: Research Funding, Speakers Bureau.
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Tiguntsev, V. V., V. I. Gerasimova, E. G. Kornetova, O. Y. Fedorenko, A. V. Semke i А. N. Kornetov. "Association of polymorphic variants of <i>GRIN2A</i> and <i>GRIN2B</i> genes with alcohol and tobacco abuse in patients with schizophrenia". Bulletin of Siberian Medicine 21, nr 3 (14.10.2022): 105–11. http://dx.doi.org/10.20538/1682-0363-2022-3-105-111.
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Aim. To compare the frequency of genotypes for polymorphic variants of GRIN2A and GRIN2B genes in patients with schizophrenia and addictive behavior (alcohol / tobacco abuse) and in patients with schizophrenia without addictive behavior in the Slavic population of the Tomsk region.Materials and methods. The study included 219 inpatients with the established diagnosis of schizophrenia who received treatment in the clinics of Mental Health Research Institute and Tomsk Clinical Psychiatric Hospital. A history of alcohol / tobacco abuse was identified during a clinical interview and objective data collection. DNA was isolated from peripheral blood leukocytes by standard phenol – chloroform extraction.15 single nucleotide polymorphisms (SNPs) in the GRIN2A gene and 9 polymorphisms in the GRIN2B gene were selected for genotyping. Allelic variants were determined by real-time polymerase chain reaction (PCR) with specific primers. The SPSS 17.0 software package was used for statistical data processing. The distribution of genotype frequency was assessed using the Pearson’s χ2 test with the Yates’ correction and the Fisher’s exact test.Results. Significant differences in the allele frequency for the rs9788936 polymorphism in the GRIN2A gene (χ2 = 4.23, p = 0.04) and for the rs10845838 polymorphism in the GRIN2B gene (χ2 = 4.27, p = 0.04) were reveled between the groups of patients with and without alcohol abuse. It was found that the polymorphic variant rs8049651 of the GRIN2A gene had a clear association (F = 8.06, p = 0.029) with the development of tobacco addiction in patients with schizophrenia.Conclusion. The study identified the association between alcohol abuse and the rs9788936 polymorphism in the GRIN2A gene and the rs10845838 polymorphism in the GRIN2B gene in patients with schizophrenia. The association between the rs8049651 and rs7190619 polymorphisms in the GRIN2A gene and the development of tobacco abuse in patients with schizophrenia was revealed.
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Haznedaroğlu, Eda, Meliha Koldemir-Gündüz, Nur Bakır-Coşkun, Hasan M. Bozkuş, Penbe Çağatay, Belgin Süsleyici-Duman i Ali Menteş. "Association of Sweet Taste Receptor Gene Polymorphisms with Dental Caries Experience in School Children". Caries Research 49, nr 3 (2015): 275–81. http://dx.doi.org/10.1159/000381426.
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Sweet taste is a powerful factor influencing food acceptance. The peripheral taste response to sugar is mediated by the TAS1R2/TAS1R3 taste receptors. The aim of the study was to determine the relationship between TAS1R2 (rs35874116 or rs9701796) and/or TAS1R3 (rs307355) single nucleotide polymorphisms with dental caries experience in schoolchildren. A total of 184 schoolchildren aged between 7 and 12 years (101 girls, 83 boys) were included in the study. Genomic DNA was extracted from saliva samples and the genotypes were identified by qPCR. The genotype frequencies were as follows: 6.6% for homozygous wild type, 41.8% for heterozygous and 51.6% for homozygous polymorphic genotype carriers of TAS1R2 gene rs35874116; 27.8% for heterozygous and 72.2% for homozygous polymorphic genotype carriers of TAS1R2 gene rs9701796, and 83.1% for homozygous wild type and 16.9% for heterozygous genotype carriers of TAS1R3 gene rs307355 polymorphism. A significant association was observed between total caries experience (dft + DMFT - decayed filled primary teeth + decayed, missing and filled permanent teeth) and TAS1R2 rs35874116 (p = 0.008) and TAS1R3 rs307355 (p = 0.04) gene polymorphisms but not for TAS1R2 gene rs9701796 polymorphism. TAS1R3 gene rs307355 polymorphism has been found to be an independent risk factor for dental caries experience by logistic regression analysis and to have increased the risk of caries. Moderate caries experience (4-7 caries) was found to be associated with TAS1R3 rs307355 heterozygous genotype, whereas high-risk caries experience (>8 caries) was found to be associated with TAS1R2 rs35874116 homozygous polymorphic genotype.
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Francis, Charles W. "Factor XIII Polymorphisms and Venous Thromboembolism". Archives of Pathology & Laboratory Medicine 126, nr 11 (1.11.2002): 1391–93. http://dx.doi.org/10.5858/2002-126-1391-fxpavt.
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Abstract Objective.—To review the relationship between factor XIII polymorphisms and venous thromboembolism. Methods.—Review of the medical literature using computerized databases and secondary sources identified through reviews of bibliographies. Data Synthesis.—Plasma factor XIII is the precursor of a transglutaminase that cross-links fibrin, thereby altering its properties, including resistance to fibrinolysis. It is, therefore, biologically plausible that alterations in factor XIII activity could affect thrombosis risk. There are 4 common polymorphic forms of factor XIII that differ among ethnic groups. The Val34Leu polymorphism results in an amino acid change near the thrombin cleavage site that may alter the rate of activation. Several case-control studies have investigated the relation of the Val34Leu polymorphism to venous thromboembolism. Some have shown a potentially protective effect of this polymorphism, but the association is not consistent. Conclusion.—Evidence is conflicting regarding the association of the factor XIII Val34Leu polymorphism with risk of venous thromboembolism, and further studies are needed before screening for this polymorphism can be recommended for evaluation of thrombophilia.
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Liu, Hao, Wenshu Shi, Dan Wang i Xingbo Zhao. "Association analysis of mitochondrial DNA polymorphisms with oocyte number in pigs". Reproduction, Fertility and Development 31, nr 4 (2019): 805. http://dx.doi.org/10.1071/rd18219.
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In pigs, correlations between mitochondrial (mt) DNA polymorphisms and economic traits have been widely reported across and within swine breeds. In fecundity studies, the number of oocytes within ovaries was highly correlated with litter size. However, the effect of mitochondrial polymorphisms on porcine oocyte number remained unclear. In this study, 181 porcine ovaries were collected to analyse the relationship between oocyte number and mtDNA polymorphisms. There were considerable differences in oocyte numbers among different ovaries from commercial pig breeds, ranging from 2.7×105 to 1.3×106. Mitochondrial D-loop sequencing discovered 53 polymorphic sites. Association analysis revealed that 13 variations were associated with the number of oocytes (P<0.05). A C323T polymorphism showed the largest value between the C and T carriers, which differed at 105 oocytes (P<0.05). The 53 polymorphic sites generated 45 haplotypes, which clustered into two haplogroups, A and B. Haplogroup A had a higher number of oocytes than Haplogroup B (P<0.05), whereas Haplotype H6 in Haplogroup A had the highest number of oocytes (~7.5×105) of all haplotypes studied (P<0.05). The results of this study highlight a correlation between mtDNA polymorphisms and oocyte number, and suggest the potential application of mtDNA polymorphism analyses in pig selection and breeding practices.
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O'hUigin, Colm, Yoko Satta, Anja Hausmann, Roger L. Dawkins i Jan Klein. "The Implications of Intergenic Polymorphism for Major Histocompatibility Complex Evolution". Genetics 156, nr 2 (1.10.2000): 867–77. http://dx.doi.org/10.1093/genetics/156.2.867.
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Abstract A systematic survey of six intergenic regions flanking the human HLA-B locus in eight haplotypes reveals the regions to be up to 20 times more polymorphic than the reported average degree of human neutral polymorphism. Furthermore, the extent of polymorphism is directly related to the proximity to the HLA-B locus. Apparently linkage to HLA-B locus alleles, which are under balancing selection, maintains the neutral polymorphism of adjacent regions. For these linked polymorphisms to persist, recombination in the 200-kb interval from HLA-B to TNF must occur at a low frequency. The high degree of polymorphism found distal to HLA-B suggests that recombination is uncommon on both sides of the HLA-B locus. The least-squares estimate is 0.15% per megabase with an estimated range from 0.02 to 0.54%. These findings place strong restrictions on possible recombinational mechanisms for the generation of diversity at the HLA-B.
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Davis, Clara L., Dawn Field, David Metzgar, Robert Saiz, Phillip A. Morin, Irene L. Smith, Stephen A. Spector i Christopher Wills. "Numerous Length Polymorphisms at Short Tandem Repeats in Human Cytomegalovirus". Journal of Virology 73, nr 8 (1.08.1999): 6265–70. http://dx.doi.org/10.1128/jvi.73.8.6265-6270.1999.
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ABSTRACT We show the presence of numerous short tandem repeats in the human cytomegalovirus (HCMV) genome and assess their usefulness as molecular markers. The genome is shown to contain at least 24 microsatellite regions that exhibit length polymorphisms. Insertion-deletion polymorphisms at these short tandem repeats are common (80% of repeats examined are polymorphic among two laboratory strains and 10 clinical isolates). This is the first report of widespread microsatellite length polymorphism in a viral genome. Some regions are highly polymorphic: one was revealed by DNA sequencing to contain length variants at five closely linked sites, which combined resulted in 10 variants for this region among the 12 strains and isolates examined. This study not only provides a new molecular marker system for this virus but also extends our understanding of microsatellite polymorphism in two important ways. First, variable-length repeats in HCMV can be considerably shorter than polymorphic repeats previously found in other organisms. Second, highly variable microsatellite repeats are not confined to prokaryotes and eukaryotes, as previously assumed. This variation provides a useful marker system for distinguishing viral isolates, and similar markers are also likely to be found in other large-genome DNA viruses.
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Poplawski, T., A. Sobczuk, J. Sarnik, E. Pawlowska i J. Blasiak. "POLYMORPHISM OF DNA MISMATCH REPAIR GENES IN ENDOMETRIAL CANCER". Experimental Oncology 37, nr 1 (22.03.2015): 44–47. http://dx.doi.org/10.31768/2312-8852.2015.37(1):44-47.
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Endometrial cancer (EC) is the second most common malignancy associated with hereditary non-polyposis colorectal cancer (HNPCC) family. The development of HNPCC is associated with defects in DNA mismatch repair (MMR) pathway resulting in microsatellite instability (MSI). MSI is present in a greater number of EC than can be accounted for by inherited MMR mutations, therefore alternative mechanisms may underline defective MMR in EC, including polymorphic variation. Aim: We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G>A (rs4987188) transition in the hMSH2 gene resulting in a Gly22Asp substitution and a –93G>A (rs1800734) transition in the promoter of the hMLH1 gene. Material and methods: These polymorphisms were genotyped in DNA from peripheral blood lymphocytes of 100 EC patients and 100 age-matched women by restriction fragment length polymorphism PCR. Results: A positive association (OR 4.18; 95% CI 2.23–7.84) was found for the G/A genotype of the –93G>A polymorphism of the hMLH1 gene and EC occurrence. On the other hand, the A allele of this polymorphism was associated with decreased EC occurrence. The Gly/Gly genotype slightly increased the effect of the –93G>A-G/A genotype (OR 4.52; CI 2.41–8.49). Our results suggest that the –93G>A polymorphism of the hMLH1 gene singly and in combination with the Gly322Asp polymorphism of the hMSH2 gene may increase the risk of EC.
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Drazdova, E. V., K. V. Kaliasniova, V. E. Syakhovich i N. А. Dalhina. "Polymorphisms of xenobiotic metabolism enzyme genes cyp2e1, gstm1, gstt1, ephx1 as biomarkers of sensitivity to exposure to water disinfection byproducts (using chloroform as an example)". health risk analysis, nr 1 (marzec 2023): 157–70. http://dx.doi.org/10.21668/health.risk/2023.1.15.eng.
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Chloroform accumulation in the body and the increase in its steady-state concentrations in blood of exposed people have been established to be associated with polymorphisms of enzyme genes in a genotype involved in metabolism of water disinfection byproducts (A415G of EPHX1 gene, C1091T of CYP2E1 gene, zero mutations of GSTT1 and GSTM1 genes) (р < 0.000001). These polymorphisms in a genotype correlate with higher chloroform levels in blood of people consuming chlorinated drinking water: by 43.8 % and higher for GSTM1 gene polymorphism; by 68.2 % and higher for GSTT1; by 80.4 % and higher for EPHX1 (р < 0.01). EPHX1 genetic polymorphism makes chloroform accumulation much more probable (levels in blood ≥ Р75), which is the most pronounced when combined with GSTТ1 genetic polymorphism. The study results allow us to consider hetero- and homozygous polymorphic genotypes AG/GG for the EPHX1 gene, CT/TT for the CYP2E1 gene, and the null allele in the GSTT1 and GSTM1 genes as genetic predisposition factors for chloroform accumulation in the body. This increases the probability of health outcomes associated with chronic exposure to this disinfection byproduct. The A415G polymorphism of the EPHX1 gene and null alleles of GSTT1 gene, their combinations including the combination with the null allele of the GSTM1 gene and/or the C1091T polymorphism of the CYP2E1 gene can be used as the most informative biomarkers of sensitivity when assessing risks associated with exposure to trihalomethanes (chloroform) at levels not exceeding MPC in water.
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Drazdova, E. V., K. V. Kaliasniova, V. E. Syakhovich i N. А. Dalhina. "Polymorphisms of xenobiotic metabolism enzyme genes cyp2e1, gstm1, gstt1, ephx1 as biomarkers of sensitivity to exposure to water disinfection byproducts (using chloroform as an example)". Health Risk Analysis, nr 1 (marzec 2023): 157–70. http://dx.doi.org/10.21668/health.risk/2023.1.15.
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Chloroform accumulation in the body and the increase in its steady-state concentrations in blood of exposed people have been established to be associated with polymorphisms of enzyme genes in a genotype involved in metabolism of water disinfection byproducts (A415G of EPHX1 gene, C1091T of CYP2E1 gene, zero mutations of GSTT1 and GSTM1 genes) (р < 0.000001). These polymorphisms in a genotype correlate with higher chloroform levels in blood of people consuming chlorinated drinking water: by 43.8 % and higher for GSTM1 gene polymorphism; by 68.2 % and higher for GSTT1; by 80.4 % and higher for EPHX1 (р < 0.01). EPHX1 genetic polymorphism makes chloroform accumulation much more probable (levels in blood ≥ Р75), which is the most pronounced when combined with GSTТ1 genetic polymorphism. The study results allow us to consider hetero- and homozygous polymorphic genotypes AG/GG for the EPHX1 gene, CT/TT for the CYP2E1 gene, and the null allele in the GSTT1 and GSTM1 genes as genetic predisposition factors for chloroform accumulation in the body. This increases the probability of health outcomes associated with chronic exposure to this disinfection byproduct. The A415G polymorphism of the EPHX1 gene and null alleles of GSTT1 gene, their combinations including the combination with the null allele of the GSTM1 gene and/or the C1091T polymorphism of the CYP2E1 gene can be used as the most informative biomarkers of sensitivity when assessing risks associated with exposure to trihalomethanes (chloroform) at levels not exceeding MPC in water.
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Shuliak, Z. V., i E. I. Mikhailova. "THE PATHOGENETIC SIGNIFICANCE OF GENE IL28B POLYMORPHISMS AT SITES RS12979860 AND RS8099917 IN THE DEVELOPMENT OF CHRONIC VIRAL HEPATITIS C IN PATIENTS OF THE SOUTH-EASTERN REGION OF BELARUS". Health and Ecology Issues, nr 4 (28.12.2016): 32–36. http://dx.doi.org/10.51523/2708-6011.2016-13-4-7.
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To study the role of IL28B gene polymorphisms in the development of chronic hepatitis C, we have determined polymorphic types of the gene at sites rs12979860 and rs8099917 using allele-specific polymerase chain reaction with real-time product detection in 21 patients with this disease. We have found the association of chronic hepatitis C with the presence of unfavorable TT genotype of gene IL28B polymorphism rs12979860, which can be regarded as a predictor of the development of this pathology. Favorable genotypes of CC rs12979860 and TT polymorphism of rs8099917 of gene IL28B are more common in healthy individuals and they are associated with higher activity of the inflammatory process in patients with chronic hepatitis C. Therefore, gene IL28B polymorphisms can affect not only the outcome of an acute viral infection but also the further course of chronic hepatitis C.
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Kulig, Hanna, Marek Kmieć i Katarzyna Wojdak-Maksymiec. "Associations between Leptin Gene Polymorphisms and Somatic Cell Count in Milk of Jersey Cows". Acta Veterinaria Brno 79, nr 2 (2010): 237–42. http://dx.doi.org/10.2754/avb201079020237.
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A total of 181 Jersey cows were used to investigate how leptin gene polymorphisms affect somatic cell count (SCC) in milk. Three single nucleotide polymorphisms were genotyped, namely the R4C polymorphism in exon 2, the Sau3AI polymorphism in intron 2 and the A59V polymorphism in exon 3. The genotype and allele frequencies for each polymorphism and the haplotype frequencies for all polymorphisms were estimated in the herd under study. Statistical analysis revealed that the R4C and Sau3AI polymorphisms significantly affected SCC (P ⪬ 0.01) with C and T as a desirable allele, respectively. No associations were found between the A59V polymorphism and SCC in this study. However, all the genotype combinations (haplotypes) significantly affected this trait. The results indicate that selection for the R4C CC and Sau3AI TT animals might contribute to a reduction of SCC in Jersey cattle.
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PENA, RAMONA N., ARMAND SÁNCHEZ i JOSEP M. FOLCH. "Characterization of genetic polymorphism in the goat β-lactoglobulin gene". Journal of Dairy Research 67, nr 2 (maj 2000): 217–24. http://dx.doi.org/10.1017/s0022029900004155.
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Two new variants have been detected and characterized for the goat β-lactoglobulin gene at the cDNA level and confirmed at the genomic level. The two polymorphisms are located on exon 7 of the gene. One of the polymorphic sites is produced by a single nucleotide substitution in position +4601, allowing a polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) genotyping procedure to be developed using SacII restriction enzyme. The other polymorphic position contains a 10 bp long insertion at position +4641 that can be detected by capillary electrophoresis of the PCR product amplified with a fluorescent primer. The association of these two polymorphisms was also investigated, resulting in the description of two new alleles. Both of these contained the point mutation at the SacII site, with or without the 10 bp insertion at position +4641. The distribution of these new polymorphisms was studied in a population of males of four different goat breeds. The gene frequencies for these variants were similar in Spanish and French breeds.
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Kachkovska, Vladyslava V. "ER22/23EK AND TTH111I POLYMORPHIC VARIANTS IN THE GLUCOCORTICOID RECEPTOR GENE IN PATIENTS WITH BRONCHIAL ASTHMA". Polski Merkuriusz Lekarski 51, nr 4 (2023): 398–402. http://dx.doi.org/10.36740/merkur202304115.
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Aim: The objective of the study was to evaluate the frequency of the ER22/23EK and Tth111I polymorphic variants in the glucocorticoid receptor (GR) gene in patients with BA and to assess the risk of BA development with regard to these polymorphisms. Materials and Methods: We examined 553 BA patients and 95 apparently healthy individuals. BA was diagnosed according to the 2016 GINA recommendations and its later versions. The study was approved by the Bioethics Committee of the Medical Institute of Sumy State University. The ER22/23EK (rs 6189/6190) and Tth111I (rs10052957) polymorphisms in the GR gene were determined using polymerase chain reaction-restriction fragment length polymorphism analysis. Statistical analysis of obtained results was performed using SPSS–17 program. Results: The obtained distribution of genotypes for the ER22/23EK and Tth111I polymorphisms in the GR gene corresponded to the Hardy-Weinberg expectations (p > 0.05). We revealed no significant difference in the distribution of alleles and genotypes for the ER22/23EK polymorphism in the GR gene in patients with asthma and apparently healthy individuals (χ2 = 4.14; p = 0.126); apart from that, we found no statistically significant association with BA risk in any model of inheritance. A statistically significant difference was observed in the distribution of genotypes for the Tth111I polymorphism in the GR gene in patients with asthma and apparently healthy individuals (χ2 = 6.278; p = 0.043). BA risk was 2.69 times higher in the carriers of TT genotype for the Tth111I polymorphism in the GR gene vs. major allele carriers. No gender-specific difference was observed in the distribution of genotypes and alleles for the ER22/23EK and Tth111I polymorphisms in the GR gene. Conclusions: We found no gender-specific difference in the distribution of alleles and genotypes for the ER22/23EK and Tth111I polymorphisms in the GR gene; no difference in the distribution of alleles and genotypes for the ER22/23EK polymorphism in the GR gene in patients with asthma and apparently healthy individuals; and no statistically significant association with BA risk. A statistically significant difference was observed in the distribution of genotypes for the Tth111I polymorphism in the GR gene in patients with asthma and apparently healthy individuals; also, BA risk was 2.69 times higher in the minor allele homozygous patients vs. major allele carriers.
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Skuratovskaia, D. A., M. A. Vulf, E. V. Kirienkova, N. I. Mironyuk, P. A. Zatolokin i L. S. Litvinova. "The role of single nucleotide polymorphisms in GIPR gene in the changes of secretion in hormones and adipokines in patients with obesity with type 2 diabetes". Biomeditsinskaya Khimiya 64, nr 2 (2018): 208–16. http://dx.doi.org/10.18097/pbmc20186402208.
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The relationship between the rs2302382, rs8111428 and Glu354Gln (rs1800437) polymorphisms in GIPR (glucosedependent insulinotropic polypeptide receptor) gene and plasma levels of mediators involved in the regulation of carbohydrate metabolism in obese patients with type 2 diabetes (before and after a test breakfast) was investigated. The contribution of polymorphic variants of rs2302382, rs8111428 in GIPR gene in the predisposition to type 2 diabetes in individuals belonging to the Slavic population of Russia was found. Polymorphisms rs2302382 and rs8111428 in the GIPR gene were characterized by the nonequilibrium cohesion. The decrease in the level of expression of the GIPR gene in adipose tissue of the small intestine mesentery in the carriers of the CC genotype rs2302382 and AA rs8111428 was associated with the increase in the plasma leptin level, whereas during normal expression, the plasma content of insulin, and GIP (in persons with the genotype of the polymorphism rs2302382 and AG polymorphism rs8111428), resistin and ghrelin (in individuals with the genotype of the polymorphism rs2302382) increased. We propose the stimulating effect of GIP on the secretion of resistin, leptin and ghrelin, with an increase in insulin production in obese patients with type 2 diabetes.
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Apu, Mohd Nazmul Hasan, Most Nasrin Aktar, Md Morshadur Rahman i Md Shaki Mostaid. "Association of TGFB1 gene polymorphisms with cervical cancer in Bangladeshi women: A case-control study". Tumor Biology 43, nr 1 (27.04.2021): 27–35. http://dx.doi.org/10.3233/tub-200061.
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OBJECTIVES: Genetic susceptibility to cervical cancer in relation to transforming growth factor beta 1 (TGFB1) gene polymorphisms has not been investigated extensively among the women in Bangladesh. So, the aim of this study was to find out the correlation of the polymorphisms of TGFB1 C509T (rs1800469) and T869C (rs1800470) with the risk of cervical cancer among the Bangladeshi women. STUDY DESIGN: 134 cervical cancer patients and 102 age-sex matched healthy controls were included from two institutions in Bangladesh. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping two TGFB1 single nucleotide polymorphisms C509T (rs1800469) and T869C (rs1800470) in patients and controls. RESULTS: No significant correlation was found between polymorphisms C509T (rs1800469) and T869C (rs1800470) of TGFB1 gene with cervical cancer in Bangladeshi women. In case of the cervical cancer patients who had first degree relatives with cancer were prone to carry the polymorphic version of the TGFB1 gene polymorphism at C509T (OR = 5.597, 95% CI = 1.224–25.597, p < 0.05) but may not result in the increase of developing cervical cancer. CONCLUSION: In summary, two polymorphisms C509T and T869C of TGFB1 gene may not be associated with cervical cancer risk in Bangladeshi women.
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Yu, Miao, Qian-Zhou Jiang, Zhe-Yi Sun, Yuan-Yuan Kong i Zhi Chen. "Association between Single Nucleotide Polymorphisms in Vitamin D Receptor Gene Polymorphisms and Permanent Tooth Caries Susceptibility to Permanent Tooth Caries in Chinese Adolescent". BioMed Research International 2017 (2017): 1–7. http://dx.doi.org/10.1155/2017/4096316.
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Purpose. Dental caries is a multifactorial infectious disease. In this study, we investigated whether single nucleotide polymorphisms (SNPs) in vitamin D receptor (VDR) gene were associated with susceptibility to permanent tooth caries in Chinese adolescents. Method. A total of 200 dental caries patients and 200 healthy controls aged 12 years were genotyped for VDR gene polymorphisms using the PCR-restriction fragment length polymorphism (PCR-RFLP) assay. All of them were examined for their oral and dental status with the WHO criteria, and clinical information such as the Decayed Missing Filled Teeth Index (DMFT) was evaluated. Genomic DNA was extracted from the buccal epithelial cells. The four polymorphic SNPs (Bsm I, Taq I, Apa I, and Fok I) in VDR were assessed for both genotypic and phenotypic susceptibilities. Results. Among the four examined VDR gene polymorphisms, the increased frequency of the CT and CC genotype of the Fok I VDR gene polymorphism was associated with dental caries in 12-year-old adolescent, compared with the controls (X2 = 17.813, p≤0.001). Moreover, Fok I polymorphic allele C frequency was significantly increased in the dental caries cases, compared to the controls (X2 = 14.144, p≤0.001, OR = 1.730, 95% CI = 1.299–2.303). However, the other three VDR gene polymorphisms (Bsm I, Taq I, and Apa I) showed no statistically significant differences in the caries groups compared with the controls. Conclusion. VDR-Fok I gene polymorphisms may be associated with susceptibility to permanent tooth caries in Chinese adolescent.
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Razgildina, Natalia D., Valentina V. Miroshnikova, Aleksey V. Fomichev, Ekaterina V. Malisheva, Alexandra A. Panteleeva i Sofia N. Pchelina. "Investigation of paraoxonase 1 activity of the workers at the plant, who have long-term contact with organophosphorus compounds". Ecological genetics 15, nr 1 (15.03.2017): 57. http://dx.doi.org/10.17816/ecogen15157-63.
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Background. Liver enzyme paraoxonase 1 (PON1) plays an important role in protection the organism from toxic effects of organophosphorus compounds (OPs) via their hydrolysis whose rate and efficiency depend on PON1 serum level activity. PON1 activity is largely determined by the polymorphic variants of the PON1 gene. Effect of long-term work with exposure to the toxic OPs on the PON1 activity is almost unknown. The aim of the present work was to study the effect of long-term work with exposure to the toxic OPs on PON1 serum enzymatic activity depending on polymorphisms Q191R, L54M, C(-108)T PON1 gene. Materials and methods. PON1 serum enzymatic activity and PON1 polymorphisms were determined in men, who were categorized in 2 groups: workers of companies providing storage and disposal of the OPs (68) and control group (37). The PON1 191, PON1 55 and PON1 108 polymorphisms were studied by polymerase chain reaction/restriction fragment length polymorphism. PON1 serum enzymatic activity was measured by a spectrophotometric method using paraoxon. Results. PON1 activity in workers with exposure to the toxic OPs relative was increased compared to the control group (p = 0,027). Differences in serum PON1 activity was shown for the carriers of certain genotypes of the PON1 gene: PON1 serum activity was higher in workers compared to controls only for LL genotype (L54M polymorphism) and C allele (C(-108)T polymorphism) carriers (p < 0,001 and p = 0,002, correspondently). Conclusion. We suggest that the increase in serum PON1 activity in workers providing storage and disposal of OPs could be modulated with the polymorphic variants of the PON1 gene.
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Archala, Aneta, Wojciech Plazinski i Anita Plazinska. "The Val34Met, Thr164Ile and Ser220Cys Polymorphisms of the β2-Adrenergic Receptor and Their Consequences on the Receptor Conformational Features: A Molecular Dynamics Simulation Study". International Journal of Molecular Sciences 23, nr 10 (13.05.2022): 5449. http://dx.doi.org/10.3390/ijms23105449.
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The gene encoding the β2-adrenergic receptor (β2-AR) is polymorphic, which results in possible differences in a primary structure of this protein. It has been shown that certain types of polymorphisms are correlated with some clinical features of asthma, including airways reactivity, whereas the influence of other is not yet understood. Among polymorphisms affecting amino acids at positions 16, 27, 34, 164 and 220, the latter three are present in the crystal structure of β2-AR, which facilitates studying them by means of molecular dynamics simulations. The current study was focused on investigating to what extent the three polymorphisms of β2-AR (i.e., Val34Met, Thr164Ile and Ser220Cys) affect the interaction of β2-AR with its natural molecular environment which includes: lipid bilayer (in the case of all three polymorphs) and Gs protein (which participates in β2-AR-mediated signaling; in the case of Ser220Cys). We have designed and carried out a series of molecular dynamics simulations at different level of resolution (i.e., either coarse-grained or atomistic simulations), accompanied by thermodynamic integration protocol, in order to identify potential polymorphism-induced alterations in structural, conformational or energetic features of β2-AR. The results indicate the lack of significant differences in the case of energies involved in the β2-AR-lipid bilayer interactions. Some differences have been observed when considering the polymorphism-induced alterations in β2-AR-Gs protein binding, but their magnitude is also negligible in relation to the absolute free energy difference correlated with the β2-AR-Gs affinity. The Val34Met and Thr164Ile polymorphisms are weakly correlated with alteration of the conformational features of the receptor around polymorphic sites. On the contrary, it has been concluded that the Ser220Cys polymorphism is correlated with several structural alterations located in the intracellular region of β2-AR, which can induce G-protein binding and, subsequently, the polymorphism-correlated therapeutic responses. More precisely, these alterations involve vicinity of intracellular loops and, in part, are the direct consequence of disturbed interactions of Ser/Cys220 sidechain within 5th transmembrane domain. Structurally, the dynamic structure exhibited by the β2-ARSer220 polymorph is closer to the Gs-compatible structure of β2-AR.
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Carpenter, Margaret A., i Tom E. Broad. "Polymorphism in the coding sequence of the horse transferrin gene". Genome 37, nr 1 (1.02.1994): 157–65. http://dx.doi.org/10.1139/g94-020.
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Transferrin, the iron transport protein of the blood, is highly polymorphic in many species, including the horse. A number of sequence polymorphisms that distinguish several of the variants of horse transferrin are reported here. Previous studies indicated that exons 12 and 15 were likely to be polymorphic. Sequencing regions of exons 12 and 15 from D and R variants revealed 10 nucleotide substitutions that encoded six amino acid replacements. The F1, F2, H2, and * variants were identical to D, and the O variant was almost identical to R, in the regions studied. The data indicated that the horse transferrin variants make up two distinct groups. The positions of differences between the D and F1 alleles were determined by analyzing single-stranded conformation polymorphisms. Sequencing then revealed three nucleotide substitutions, two of which encoded amino acid substitutions. Location of the eight polymorphic residues on the three-dimensional structure of human lactoferrin revealed that all were clustered at one end of the C-lobe.Key words: sequence polymorphism, transferrin, horse, nucleotide substitution, allele.
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Sorokina, E. Yu, A. V. Pogozheva i D. B. Nikityuk. "Study of the association of gene polymorphism with the risk of non-communicable diseases in martial artists". Sports medicine: research and practice 11, nr 2 (22.09.2021): 25–33. http://dx.doi.org/10.47529/2223-2524.2021.2.5.
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Objective: to study the effect of genetic polymorphisms: rs rs9939609 (FTO gene), rs4994 (ADRB3 gene), rs1042713 (ADRB2 gene), rs2228570 (VDR gene), rs1801133 (MTHFR gene) on anthropometric and lipid metabolism indicators in athletes representing martial arts.Materials and methods: studies of anthropometric and biochemical parameters, genetic polymorphisms were carried out in 120 athletes (101 men and 19 women) who are engaged in martial arts. Anthropometric studies were performed by measuring height (cm), body weight (kg), followed by calculating body mass index (BMI, kg / m2). Biochemical nutritional status markers were determined using the ABX Pentra 400 analyzer (HORIBA ABX SAS, France) in an automatic mode. Genotyping was performed using allelespecific amplification using TaqMan probes complementary to polymorphic DNA regions and realtime detection of the results using reagent kits from Syntol, Russia. Studies were performed on the device CFX96 Real Time System (BioRad, USA). Statistical processing of the results was performed using the PASW Statistics 20 system.Results: as a result of generic Diovan athletes martial artists on the risk of noncommunicable diseases, discovered that the frequency of allele A of rs9939609 polymorphism of the FTO gene they have is 43.9 %, allele polymorphism rs4994 ADRB3 gene — 10.9 %, G allele of rs1042713 ADRB2 gene polymorphism — 52.6 %, G allele of the polymorphism rs2228570 VDR gene with 44.9 % and allele t of rs1801133 in the MTHFR gene to 36.7 %. An association was found between the value of anthropometric indicators in male martial artists and the presence of polymorphisms rs9939609 (FTO), rs1042713 (ADRB2) and rs2228570 (VDR).Conclusions: the reason for the identified dyslipidemia in martial artists may be not only the previously detected violations of the structure of their nutrition, but also the presence of certain genetic polymorphisms, in particular, rs4994 of the ADRB3 gene and rs1042713 of the ADRB2 gene.
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Fargion, Silvia, Luca Valenti, Paola Dongiovanni, Anna Scaccabarozzi, Anna Ludovica Fracanzani, Emanuela Taioli, Michela Mattioli, Maurizio Sampietro i Gemino Fiorelli. "Tumor necrosis factor α promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis". Blood 97, nr 12 (15.06.2001): 3707–12. http://dx.doi.org/10.1182/blood.v97.12.3707.
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Severe iron overload usually develops in patients with hereditary hemochromatosis (HHC), but variability in the phenotypic expression of the disease has been reported. This study assessed whether tumor necrosis factor α (TNF-α) plays a role in phenotypic expression of HHC. Sixty-four patients with HHC and 172 healthy volunteers (controls) were studied. Release of TNF-α from stimulated peripheral blood monocytes was measured by enzyme-linked immunosorbent assay, and 308 and 238 TNF-α polymorphisms were detected with polymerase chain reaction and restriction fragment-length polymorphism analysis. The relation between TNF-α polymorphisms and clinical expression of HHC was evaluated. Patients with HHC released less TNF-α than controls, but the difference was significant only in homozygotes for the C282Y mutation. The prevalence of the 308 TNF-α polymorphism was similar in patients and controls, whereas the prevalence of the 238 polymorphic allele was significantly lower in patients (3% versus 16%;P = .002). A lower prevalence of cirrhosis was observed in patients with TNF-α polymorphism than in those without it (4 of 15 [27%] versus 28 of 49 [57%]), but the difference was not significant (P = .07). In nonhomozygotes for the C282Y mutation, severe liver siderosis was less prevalent in patients with the 308 polymorphism than in those without it (P = .05). Alanine aminotransferase (ALT) values were significantly lower in patients with TNF-α polymorphism (P = .006), even when patients with other hepatotoxic factors were excluded. Multivariate analysis showed that TNF-α polymorphism was independently associated with ALT values (P = .0008 and P = .045, respectively, in homozygotes and nonhomozygotes for the C282Y mutation) and siderosis in nonhomozygotes (P = .047). Thus, TNF-α appears to play a role in HHC by modulating the severity of liver damage.
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Smirnova, O. V., i D. V. Lagutinskaya. "Association of hematological parameters on polymorphisms of HFE gene (rs1800562, rs1800730, rs1799945) in non-alcoholic fatty liver disease". Cytokines and inflammation 20, nr 3 (11.04.2024): 37–42. http://dx.doi.org/10.17816/ci629624.
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Background. Non-alcoholic fatty liver disease and its associated metabolic syndrome are one of the most common chronic liver diseases among adults worldwide. One of the reasons associated with unfavorable course may be an abnormalities of iron metabolism associated with of fatty liver degeneration, caused by the presence of a certain polymorphic locus of the HFE gene.
Aim. Study the dependence of changes in hematological parameters on HFE gene polymorphisms among patients with non-alcoholic fatty liver disease with metabolic syndrome and normal body weight.
Materials and methods. The study included 173 patients, of which 85 people had NAFLD and normal body weight, 88 people had NAFLD and metabolic syndrome. All patients underwent genotyping of the rs1800562, rs1800730, rs1799945 polymorphisms of the HFE gene, as well as assessment of hematological parameters. Statistical analysis was performed out using the Statistica 10 package.
Results. Patients with NAFLD and normal body weight were characterized by the presence of the AT genotype of the rs1800730 polymorphism and the CG and GG genotypes of the rs1799945 polymorphism. In patients with NAFLD and metabolic syndrome, genotypes AA and TT of the rs1800730 polymorphism and CC of the rs1799945 polymorphism were more common.
Changes in hematological parameters were noted in both groups. In patients with normal body weight, an increase in ESR and monocytosis was observed. Patients with metabolic syndrome had anemia, increased ESR and pancytopenia.
Conclusion. Patients with NAFLD and normal body weight are characterized by the AT genotypes of the rs1800730 polymorphism and the CG and GG genotypes of the rs1799945 polymorphism. In patients with metabolic syndrome, variants of the AA polymorphism rs1800730 and CC polymorphism rs1799945 are more common. The rs1800562 polymorphism did not show significant differences in prevalence when compared between groups.
In patients with normal body weight, changes in hematological parameters are less pronounced, an increase in ESR and monocytosis is noted. In patients with metabolic syndrome, on the contrary, disturbances in hematological parameters are more pronounced; panleukopenia, increased ESR, and anemia are noted.
The changes we discovered may be evidence that in patients with NAFLD and normal body weight, steatosis and chronic inflammation predominated, and in patients with metabolic syndrome and NAFLD, steatohepatitis, which has a negative effect on organ systems. One of the risk factors for its development was the AA genotype of the rs800730 polymorphism and the CC genotype of the rs1799945 polymorphism.
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Rai, K. N. "Regional patterns of polymorphisms in natural populations of Avena barbata". Canadian Journal of Genetics and Cytology 27, nr 6 (1.12.1985): 639–43. http://dx.doi.org/10.1139/g85-096.
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A detailed survey of polymorphisms at two morphological marker loci (B/b for lemma color and Ls/ls for leafsheath hairiness) was carried out in natural populations of Avena barbata from California. Based on the degrees of polymorphisms at both loci, four major regions (I, II, III, IV) were recognized. The central-north coastal region I was highly polymorphic at both loci, whereas the south-coastal region IV was monomorphic for genotype BB lsls. Inland valley region III was also largely monomorphic for the same genotype. Except region II in which founder effects seemed to have played a significant role leading to low amounts of polymorphism and large differentiations among isolated small populations, temperatures on the east–west axis, and precipitation on the north–south axis appeared to be the primary environmental variables associated with the regional patterns of polymorphisms.Key words: Avena barbata, polymorphism, environmental associations