巴基斯坦人群中VDR基因变异(rs1544410)与2型糖尿病的相关性

Balkan journal of medical genetics : BJMG Pub Date : 2019-12-21 eCollection Date: 2019-12-01 DOI:10.2478/bjmg-2019-0026
A Khan, S Khan, A Aman, Y Ali, M Jamal, B Rahman, M Ahmad, M Aasim, F Jalil, A A Shah
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引用次数: 8

摘要

本研究旨在测量巴基斯坦队列中体重指数(BMI)、随机血糖/空腹血糖(RBS/FBS)测试和血红蛋白A1c的平均值,并研究遗传变异rs1544410在VDR基因中的作用。本研究共收集2型糖尿病(T2DM)患者469例,1型糖尿病(T1DM)患者145例,健康对照303例,共917例。在总样本集中,500人(250例T2DM病例和250例对照)被分型为rs1544410。AA纯合子65例(26.0%),对照组32例(12.8%);AG杂合子69例(27.6%),139例(55.6%);GG纯合子116例(46.4%),79例(31.6%)(χ2 = 41.81, p = 0.0001)。此外,病例和对照组的等位基因频率分布相似[p值= 0.866;优势比(OR) = 0.967;相对危险度(RR) = 1.034]。纯合子显性差异显著[OR = 2.394 (1.501 ~ 3.816);Rr = 1.46 (1.225-1.740);p = 0.003]和纯合隐性模型[OR = 2.970 (2.086-4.227);Rr = 1.798 (1.501-2.154);p = VDR基因。这些研究结果表明,VDR基因与T2DM相关,基因变异rs1544410的GG基因型是我们巴基斯坦队列中的易感基因型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Association of <i>VDR</i> Gene Variant (rs1544410) with Type 2 Diabetes in a Pakistani Cohort.

Association of VDR Gene Variant (rs1544410) with Type 2 Diabetes in a Pakistani Cohort.

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 (χ2 = 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.

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