外贝加尔湖地区俄罗斯人群痛风患者叶酸周期基因多态性

N. Kushnarenko, M. Mishko, Tatyana A. Medvedeva
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Genetic polymorphisms of the MTHFR C677T and MTR A2756G genes are involved in the development of gout in individuals of Russian ethnicity in the population of the Trans-Baikal Territory. Minor T allele (χ2 = 4.65, p = 0.03, OR = 1.83, CI95% = 1.05–3.17) and the T/T genotype (χ2 = 6.5, p = 0.01, OR = 5.94, CI95% = 1.3–27.00) of the C677T locus of the MTHFR gene, minor G allele (χ2 = 6.46, p = 0.01, OR = 2.38, CI95% = 1.2–4.69) and the A/G genotype of the MTR A2756G gene (χ2 = 5.78, p = 0.01, OR = 2.66, CI95% = 1.18–5.98 ) were identified as alleles and genotypes having increased risk for developing gout. While the C allele (χ2 = 4.65, p = 0.03, OR = 0.55, CI95% = 0.31–0.94) of the MTHFR C677T gene, and allele A (χ2 = 6.46, p = 0.01, OR = 0.42, CI95% = 0.21–0.83) and genotype A/A (χ2 = 7.58, p = 0.006, OR = 0.33, CI95% = 0.15–0.74) of the A2756G locus of the MTR gene were determined as genotypes and alleles having a protective effect. Conclusion. 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引用次数: 3

摘要

目标。目的研究痛风患者叶酸循环基因(MTHFR C677T、MTHFR A1298G、MTR A2756G、MTRR A66G)多态性位点的基因型和等位基因频率分布,并评价其与痛风发病风险的相关性。材料与方法:对80例痛风患者(男69例,女11例)进行了检查。根据ACR/EULAR分类标准,2015进行痛风诊断。从全外周血白细胞中分离的DNA是用于遗传分析的材料。对所有患者进行基因分型,检测MTHFR C677T、MTHFR A1298G、MTR A2756G、MTRR A66G基因位点多态性。统计数据处理采用统计软件包statistia 10.0。结果。MTHFR C677T和MTR A2756G基因的遗传多态性与跨贝加尔湖地区人群中俄罗斯民族个体的痛风发展有关。小T等位基因(χ2 = 4.65,p = 0.03, = 1.83, CI95% = 1.05 - -3.17)和T / T基因型(χ2 = 6.5,p = 0.01, = 5.94, CI95% = 1.3 - -27.00)的MTHFR基因C677T轨迹,小G等位基因(χ2 = 6.46,p = 0.01, = 2.38, CI95% = 1.2 - -4.69)的A / G基因型地铁A2756G基因(χ2 = 5.78,p = 0.01, = 2.66, CI95% = 1.18 - -5.98)被确定为等位基因和基因型的风险增加发展中痛风。MTHFR C677T基因的C等位基因(χ2 = 4.65, p = 0.03, OR = 0.55, CI95% = 0.31 ~ 0.94)、MTR基因A2756G位点的A等位基因(χ2 = 6.46, p = 0.01, OR = 0.42, CI95% = 0.21 ~ 0.83)和A/A基因型(χ2 = 7.58, p = 0.006, OR = 0.33, CI95% = 0.15 ~ 0.74)分别为具有保护作用的基因型和等位基因。结论。痛风患者MTHFR C677T和MTR A2756G基因型和等位基因频率分布与对照组有显著差异。MTHFR C677T基因的次要T等位基因和T/T基因型、MTR A2756G基因的次要G等位基因和A/G基因型的存在与痛风风险增加有关。相比之下,携带MTHFR C677T基因的C等位基因、MTR A2756G基因的A/A型等位基因具有潜在的保护作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Polymorphism in folate cycle genes in patients with gout in the Russian population of Trans-Baikal Territory
Objective. To study the frequency distribution of genotypes and alleles of polymorphic loci of folate cycle genes (MTHFR C677T, MTHFR A1298G, MTR A2756G, MTRR A66G) in patients with gout and to evaluate their association with the risk of the disease. Material and Methods. 80 patients (69 men and 11 women) with gout were examined. The diagnosis of gout was made according to the classification criteria ACR/EULAR, 2015. DNA isolated from white blood cells of whole peripheral blood was the material used in the genetic analyses. All patients were genotyped to detect polymorphisms of the MTHFR C677T, MTHFR A1298G, MTR A2756G, MTRR A66G gene loci. Statistical data processing was performed using the software package Statistiсa 10.0. Results. Genetic polymorphisms of the MTHFR C677T and MTR A2756G genes are involved in the development of gout in individuals of Russian ethnicity in the population of the Trans-Baikal Territory. Minor T allele (χ2 = 4.65, p = 0.03, OR = 1.83, CI95% = 1.05–3.17) and the T/T genotype (χ2 = 6.5, p = 0.01, OR = 5.94, CI95% = 1.3–27.00) of the C677T locus of the MTHFR gene, minor G allele (χ2 = 6.46, p = 0.01, OR = 2.38, CI95% = 1.2–4.69) and the A/G genotype of the MTR A2756G gene (χ2 = 5.78, p = 0.01, OR = 2.66, CI95% = 1.18–5.98 ) were identified as alleles and genotypes having increased risk for developing gout. While the C allele (χ2 = 4.65, p = 0.03, OR = 0.55, CI95% = 0.31–0.94) of the MTHFR C677T gene, and allele A (χ2 = 6.46, p = 0.01, OR = 0.42, CI95% = 0.21–0.83) and genotype A/A (χ2 = 7.58, p = 0.006, OR = 0.33, CI95% = 0.15–0.74) of the A2756G locus of the MTR gene were determined as genotypes and alleles having a protective effect. Conclusion. Significant differences were found in the frequency distribution of genotypes and alleles of the MTHFR C677T and MTR A2756G genes in gout patients compared with the control group. The presence of minor T allele and the T/T genotype of MTHFR C677T gene, the minor G allele and the A/G genotype of MTR A2756G gene was associated with an increased risk of gout. In contrast, the carriage of the C allele of MTHFR C677T gene, allele A and the genotype A/A of MTR A2756G gene had a potentially protective effect.
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