分子进化与基因组多样性（张亚平）知识库

The role of mitochondrial DNA (mtDNA) variant 16189T>C in type 2 diabetes mellitus (T2DM) remains hotly debated in the past decade. If mutation 16189T>C indeed posed a risk to T2DM, as echoed by some recent studies, correlation between this mutation and disease should be observed when carrying out a systematical study using data and samples collected in a large geographic region in China. To test this hypothesis, we first performed a linear regression analysis between the prevalence of T2DM and the allele frequency of 16189C variant in 10 East Asian populations, and further genotyped this variant in two case-control cohorts from west Han Chinese (Kunming and Xining). Linear regression analysis showed that no significant correlation was observed (r(2) = 0.211, P = 0.181), and the genotyping results indicated that the m. 16189T>C frequency difference between case and control was not significant in either populations (P = 0.38 and 0.89 for Kunming and Xining, respectively). Matrilineal backgrounds constitution (in terms of haplogroups) analysis generated a similar haplogroup distribution in both populations (P>0.1). All results failed to substantiate that m. 16189T>C may play an active role in the development of T2DM in East Asian populations.