The contribution of genes towards T2D development varies among different population groups across the world. It has been reported that a number of loci involved in T2D susceptibility are common across certain population groups, but ethnicity specific variants are also observed. The population of Mizoram has an independent ethnic identity and there are no scientific records about the history of the Mizo people; which makes this ethnic group unique and interesting to study. The aim of the study focuses on the identification of the gene variants which may contribute to T2D susceptibility in Mizo-Mongloid ethnic tribe of North east India through whole exome sequencing. The variants like 328G>C (KRT18), 997G>T (CYP4A11), 2368T>C (SLC4A3), 508G>A (SLC26A5), 1659C>T (KCNS1), 650C>A (ABCD1) 821A>T (YTHDC2), 931G>T (PINX1), 3280C>A (TNRC6A), 48C>A(TACO1), 6035A>T(LAMA1), 805C>A(ACP7) and 806A>G(ACP7) variants were not reported for any disease in the database and were found to be pathogenic in different insilico analysis softwares. The changes in protein stability upon mutation has been predicted where 35.71% increases the stability of the protein, while 64.28% of the variants decrease the stability of the protein. These findings present the population specific variants which might involve in the susceptibility to T2D in Mizo population. Further, in this study some gene variants have contribution as a possible diagnostic or prognostic marker for other diseases as well, which suggests the need for performing association analysis for different disease manifestations in Mizo population in the near future.

在全球不同人群中，基因对T2D发育的贡献各不相同。据报道，在某些人群中，许多涉及T2D易感性的基因座是常见的，但是也观察到种族特异性变异。米佐拉姆邦的居民具有独立的种族身份，没有关于米佐族历史的科学记录；这使得该族群独特而有趣。该研究的目的在于通过整个外显子组测序鉴定可能有助于印度东北米佐-蒙古族部落的T2D易感性的基因变异。诸如328G> C（KRT18），997G> T（CYP4A11），2368T> C（SLC4A3），508G> A（SLC26A5），1659C> T（KCNS1），650C> A（ABCD1）821A> T（YTHDC2），931G> T（PINX1），3280C> A（TNRC6A），48C> A（TACO1），6035A> T（LAMA1） ，805C> A（ACP7）和806A> G（ACP7）在数据库中未报告任何疾病的变体，并且在不同的计算机分析软件中被发现具有致病性。已经预测了突变后蛋白质稳定性的变化，其中35.71％增加了蛋白质的稳定性，而64.28％的变体降低了蛋白质的稳定性。这些发现提出了特定人群的变异，可能与Mizo人群对T2D的易感性有关。此外，在这项研究中，一些基因变异也可能作为其他疾病的诊断或预后标志物，这表明在不久的将来有必要对米佐族不同疾病表现进行关联分析。