Healthcare Biotechnology, Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), H-12, Islamabad, Pakistan.
Healthcare Biotechnology, Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), H-12, Islamabad, Pakistan.
Gene. 2021 May 30;783:145563. doi: 10.1016/j.gene.2021.145563. Epub 2021 Mar 9.
Genome-wide association studies (GWAS) have identified multiple type 2 diabetes (T2D) loci, mostly among populations of European descent. There is a high prevalence of T2D among Pakistanis. Both genetic and environmental factors may be responsible for this high prevalence. In order to understand the shared genetic basis of T2D among Pakistanis and Europeans, we examined 77 genome-wide significant variants previously implicated among European populations. We genotyped 77 single-nucleotide polymorphisms (SNPs) by iPLEX® Gold or TaqMan® assays in a case-control sample of 1,683 individuals. Association analysis was performed using logistic regression. A total of 16 SNPs (TCF7L2/rs7903146, GLIS3/rs7041847, CHCHD9/rs13292136, PLEKHA1/rs2292626, FTO/rs9936385, CDKAL1/rs7756992, KCNJ11/rs5215, LOC105372155/rs12970134, KCNQ1/rs163182, CTRB1/rs7202877, ST6GAL1/rs16861329, ADAMTS9-AS2/rs6795735, LOC105370275/rs1359790, C5orf67/rs459193, ZBED3-AS1/rs6878122 and UBE2E2/rs7612463) showed statistically significant associations after controlling for the false discovery rate. While KCNQ1/rs163182 and ZBED3-AS1/rs6878122 showed opposite allelic effects, the remaining significant SNPs had the same allelic effects as reported previously. Our data indicate that a selected number of T2D loci previously identified among populations of European descent also affect the risk of T2D in the Pakistani population.
全基因组关联研究（GWAS）已经确定了多个 2 型糖尿病（T2D）的位点，这些位点主要存在于欧洲血统的人群中。巴基斯坦人中有很高的 T2D 患病率。遗传和环境因素都可能导致这种高患病率。为了了解巴基斯坦人和欧洲人之间 T2D 的共同遗传基础，我们研究了之前在欧洲人群中发现的 77 个全基因组显著变异。我们通过 iPLEX® Gold 或 TaqMan® 检测方法对 1683 名个体的病例对照样本中的 77 个单核苷酸多态性（SNP）进行了基因分型。使用逻辑回归进行关联分析。共有 16 个 SNP（TCF7L2/rs7903146、GLIS3/rs7041847、CHCHD9/rs13292136、PLEKHA1/rs2292626、FTO/rs9936385、CDKAL1/rs7756992、KCNJ11/rs5215、LOC105372155/rs12970134、KCNQ1/rs163182、CTRB1/rs7202877、ST6GAL1/rs16861329、ADAMTS9-AS2/rs6795735、LOC105370275/rs1359790、C5orf67/rs459193、ZBED3-AS1/rs6878122 和 UBE2E2/rs7612463）在控制假发现率后显示出统计学上的显著相关性。虽然 KCNQ1/rs163182 和 ZBED3-AS1/rs6878122 显示出相反的等位基因效应，但其余显著 SNP 的等位基因效应与之前报道的相同。我们的数据表明，先前在欧洲人群中发现的一些 2 型糖尿病（T2D）位点也会影响巴基斯坦人群中 T2D 的发病风险。
