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首页> 外文期刊>Balkan journal of medical genetics: BJMG >Association of VDR gene variant (rs1544410) with type 2 diabetes in a Pakistani cohort
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Association of VDR gene variant (rs1544410) with type 2 diabetes in a Pakistani cohort

机译：VDR基因变体（RS1544410）与巴基斯坦队列中2型糖尿病的关联

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The present study was designed to measure the mean values of body mass index (BMI), random blood sugar/ fast ing blood sugar (RBS/FBS) tests, and Hb A1c and to investigate the role of a genetic variant rs1544410 in the VDR gene in a Pakistani cohort. For this purpose, a total of 917 samples including 469 diabetes mellitus type 2 (T2DM), 145 DM type 1 (T1DM), and 303 healthy control were collected. Out of the total sample set, 500 individuals (250 T2DM cases and 250 controls) were genotyped for rs1544410. It was found that 65 (26.0%) cases and 32 (12.8%) controls had homozygous AA, while 69 (27.6%) cases and 139 (55.6%) controls had heterozygous AG, and 116 (46.4%) cases and 79 (31.6%) controls had homozygous GG (??2 = 41.81, p = 0.0001). In addition, a similar distribution of allele frequency was determined in cases and controls [p value = 0.866; odds ratio (OR) = 0.967; relative risk (RR) = 1.034]. A significant difference was observed in homozygous dominant [OR = 2.394 (1.501-3.816); RR = 1.46 (1.225-1.740); p = 0.003] and homozygous recessive models [OR = 2.970 (2.086-4.227); RR = 1.798 (1.501-2.154); p = 0.0001] analysis of rs1544410 in the VDR gene. These findings suggest that the VDR gene is associated with T2DM and genotype GG of genetic variant rs1544410 is the susceptible genotype in our Pakistani cohort.
机译：本研究旨在测量体重指数（BMI），随机血糖/快速血糖（RBS / FBS）测试和HB A1C的平均值，并研究遗传变异RS1544410在VDR基因中的作用在巴基斯坦队列中。为此目的，收集总共917个样品，包括469型糖尿病2（T2DM），145dm型1（T1DM）和303个健康对照。除了总样品集中，500个个体（250个T2DM案例和250个对照）均为RS1544410进行基因分型。结果发现，65例（26.0％）和32例（12.8％）对照具有纯合AA，而69例（27.6％）和139例（55.6％）对照有杂合效应，116例（46.4％）和79例（31.6）（31.6 ％）对照具有纯合GG（?? 2 = 41.81，P = 0.0001）。此外，在病例和对照中确定了等位基因频率的类似分布[P值= 0.866;赔率比（或）= 0.967;相对风险（RR）= 1.034]。在纯合子占优势[或= 2.394（1.501-3.816）中观察到显着差异; RR = 1.46（1.225-1.740）; p = 0.003]和纯合隐性型号[或= 2.970（2.086-4.227）; RR = 1.798（1.501-2.154）; P = <0.0001] VDR基因RS1544410分析。这些发现表明，VDR基因与T2DM相关，遗传变异RS1544410的基因型GG是我们巴基斯坦队列中的易感基因型。

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