Sokhi Jasmine, Sikka Ruhi, Raina Priyanka, Kaur Ramandeep, Matharoo Kawaljit, Arora Punit, Bhanwer Ajs
Department of Human Genetics, Guru Nanak Dev University, Amritsar, 143 005, Punjab, India.
Diabetic Clinic and Research Institute, 171, Green Avenue, Amritsar, 143001, Punjab, India.
Mol Genet Genomics. 2016 Feb;291(1):205-16. doi: 10.1007/s00438-015-1099-2. Epub 2015 Aug 7.
Genetic contributions towards Type 2 diabetes (T2D) have been assessed through association studies across different world populations with inconsistencies. The majority of the T2D susceptibility loci are common across different races or populations but show ethnicity-specific differences. The pathogenesis of T2D involves genetic variants in the candidate genes. The interactions between the genes involved in insulin signaling and secretory pathways are believed to play an important role in determining an individual's susceptibility towards T2D. Therefore, the present study was initiated to examine the differences, if any, in the contribution of polymorphisms towards T2D susceptibility in the background of different ethnic specifications. The present case-control study included a total of 1216 T2D cases and healthy controls from three ethnic groups (Jat Sikhs, Banias and Brahmins) of North-West India. Polymorphisms were selected on the basis of information available in the literature for INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) in context to T2D. The genotyping was done using PCR-RFLP method. Statistical analysis was done using SPSS 16.0. The analyses revealed that INS (rs689) polymorphism conferred risk towards T2D susceptibility in all the three ethnic groups whereas INSR (rs1799816) polymorphism conferred risk towards T2D in Brahmins only and PP1G.G (rs1799999) polymorphism indicated T2D risk in Jat Sikhs only. Furthermore, interaction analyses indicated the cumulative role of three genetic variants in modulating T2D susceptibility in the three ethnic groups. In conclusion, our results substantiated the evidences for the role of ethnicity in differential susceptibility to T2D in the background of same genetic variants.
通过对不同世界人群进行关联研究,评估了遗传因素对2型糖尿病(T2D)的影响,但结果并不一致。大多数T2D易感基因座在不同种族或人群中是常见的,但存在种族特异性差异。T2D的发病机制涉及候选基因中的遗传变异。胰岛素信号传导和分泌途径相关基因之间的相互作用被认为在决定个体对T2D的易感性方面起着重要作用。因此,本研究旨在探讨在不同种族背景下,多态性对T2D易感性贡献的差异(如果有的话)。本病例对照研究共纳入了来自印度西北部三个种族群体(贾特锡克人、巴尼亚斯人和婆罗门)的1216例T2D病例和健康对照。根据文献中关于T2D的信息,选择了INS(rs689)、INSR(rs1799816)和PP1G.G(rs1799999)的多态性。采用PCR-RFLP方法进行基因分型。使用SPSS 16.0进行统计分析。分析显示,INS(rs689)多态性在所有三个种族群体中都增加了T2D易感性风险,而INSR(rs1799816)多态性仅在婆罗门中增加了T2D风险,PP1G.G(rs1799999)多态性仅在贾特锡克人中显示出T2D风险。此外,相互作用分析表明这三个基因变异在调节三个种族群体的T2D易感性方面具有累积作用。总之,我们的结果证实了在相同遗传变异背景下,种族在T2D易感性差异中的作用的证据。