Validation of Genome-Wide Association Studies (GWAS)-Identified Type 2 Diabetes Mellitus Risk Variants in Pakistani Pashtun Population.

IF 0.6 Q4 ENDOCRINOLOGY & METABOLISM Journal of the ASEAN Federation of Endocrine Societies Pub Date : 2023-01-01 DOI:10.15605/jafes.037.S5

Asif Jan, Zakiullah, Fazli Khuda, Rani Akbar

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引用次数: 1

Abstract

Objective: Recent GWAS largely conducted in European populations have successfully identified multiple genetic risk variants associated with Type 2 Diabetes Mellitus (T2DM). However, the effects conferred by these variants in the Pakistani population have not yet been fully elucidated. The objective of this study was to examine European GWAS-identified T2DM risk variants in the Pakistani Pashtun population to better understand the shared genetic basis of T2DM in the European and Pakistani cohorts.

Methodology: A total of 100 T2DM patients and 100 healthy volunteers of Pashtun ethnicity were enrolled in this study. Both groups were genotyped for 8 selected single nucleotide polymorphisms (SNPs) using the Sequenom MassARRAY^® platform. The association between selected SNPs and T2DM was determined by using appropriate statistical tests.

Results: Of the 8 studied SNPs, 5 SNPs, SLC30A8/ rs13266634 (p=0.031, OR=2.13), IGF2BP2/ rs4402960 (p=0.001, OR=3.01), KCNJ11/ rs5219 (p=0.042, OR=1.78), PPARG/ rs1801282 (p=0.042, OR=2.81) and TCF7L2/ rs7903146 (p=0.00006, 3.41) had a significant association with T2DM. SNP GLIS3/ rs7041847 (p=0.051, OR=2.01) showed no sufficient evidence of association. SNPs KCNQ1/ rs2237892 (p=0.140, OR=1.61) and HHEX/IDE/ s1111875 (p=0.112, OR=1.31) showed opposite allelic effects and were not validated for T2DM risk in the study population. Among the studied SNPs, TCF7L2/ rs7903146 showed the most significant association.

Conclusion: Our study finding indicates that selected genome-wide significant T2DM risk variants previously identified in European descent also increase the risk of developing T2DM in the Pakistani Pashtun population.

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全基因组关联研究(GWAS)在巴基斯坦普什图人群中鉴定的2型糖尿病风险变异的验证

目的:最近在欧洲人群中进行的GWAS已经成功地确定了与2型糖尿病(T2DM)相关的多种遗传风险变异。然而，这些变异对巴基斯坦人群的影响尚未完全阐明。本研究的目的是检查巴基斯坦普什图人群中欧洲gwas识别的T2DM风险变异，以更好地了解欧洲和巴基斯坦人群中T2DM的共同遗传基础。方法:本研究共纳入100例2型糖尿病患者和100名普什图族健康志愿者。使用Sequenom MassARRAY®平台对8个选定的单核苷酸多态性(snp)进行基因分型。选定snp与T2DM之间的关系通过适当的统计检验确定。结果:8个snp中，SLC30A8/ rs13266634 (p=0.031, OR=2.13)、IGF2BP2/ rs4402960 (p=0.001, OR=3.01)、KCNJ11/ rss5219 (p=0.042, OR=1.78)、PPARG/ rs1801282 (p=0.042, OR=2.81)和TCF7L2/ rs7903146 (p=0.00006, 3.41)与T2DM有显著相关性。SNP GLIS3/ rs7041847 (p=0.051, OR=2.01)无充分证据表明两者存在相关性。snp KCNQ1/ rs2237892 (p=0.140, OR=1.61)和HHEX/IDE/ s1111875 (p=0.112, OR=1.31)显示相反的等位基因效应，未被证实与研究人群中的T2DM风险有关。在所研究的snp中，TCF7L2/ rs7903146的相关性最为显著。结论:我们的研究发现表明，先前在欧洲血统中发现的选定的全基因组显著T2DM风险变异也增加了巴基斯坦普什图人群患T2DM的风险。

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来源期刊

Journal of the ASEAN Federation of Endocrine Societies ENDOCRINOLOGY & METABOLISM-

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

8 weeks

期刊介绍： The Journal of the ASEAN Federation of Endocrine Societies (JAFES) is an OPEN ACCESS, internationally peer-reviewed, English language, medical and health science journal that is published in print two times a year by the ASEAN Federation of Endocrine Societies. It shall serve as the endocrine window between the ASEAN region and the world, featuring original papers and publishing key findings from specialists and experts of endocrinology.