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首页> 美国卫生研究院文献>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基因变异（rs1544410）与巴基斯坦队列中的2型糖尿病的关联

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摘要

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 A and to investigate the role of a genetic variant rs1544410 in the 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 (χ = 41.81, = 0.0001). In addition, a similar distribution of allele frequency was determined in cases and controls [ 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); = 0.003] and homozygous recessive models [OR = 2.970 (2.086-4.227); RR = 1.798 (1.501-2.154); = <0.0001] analysis of rs1544410 in the gene. These findings suggest that the 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/空腹血糖（RBS / FBS）测试和血红蛋白（Hb A）的平均值，并研究基因rs1544410在该基因中的作用。巴基斯坦人。为此，总共收集了917个样本，包括469个2型糖尿病（T2DM），145个1型DM（T1DM）和303个健康对照。在总样本集中，对rs1544410的500个个体（250个T2DM病例和250个对照）进行了基因分型。发现65名（26.0％）病例和32名（12.8％）对照具有纯合AA，而69名（27.6％）病例和139名（55.6％）对照具有杂合性AG，而116名（46.4％）病例和79名（31.6） ％）对照具有纯合GG（χ＝ 41.81，＝ 0.0001）。另外，在病例和对照中确定了等位基因频率的类似分布[值= 0.866；比值比（OR）= 0.967；相对风险（RR）= 1.034]。在纯合子优势中观察到显着差异[OR = 2.394（1.501-3.816）; RR = 1.46（1.225-1.740）; = 0.003]和纯合隐性模型[OR = 2.970（2.086-4.227）; RR = 1.798（1.501-2.154）; = <0.0001]基因中rs1544410的分析。这些发现表明该基因与T2DM相关，而遗传变异rs1544410的基因型GG是我们巴基斯坦人队列中的易感基因型。

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