Mitochondrial DNA Mutations Associated with Type 2 Diabetes Mellitus in Chinese Uyghur Population

Wenxi Jiang,Jinming Lin,Ronghui Li,Mingliang Gu,Panpan Wang,Yongbiao Zhang,Jun Yu,Tingting Wu

doi:10.1038/s41598-017-17086-7

Abstract

A hospital-based case-control study was conducted to investigate potential association between mitochondrial DNA and Type 2 diabetes mellitus (T2DM) in Chinese Uyghur population. We sequenced mitochondrial DNA from 210 Uyghur individuals including 88 T2DM patients and 122 controls. Using haplogroup classification and association test, we found that haplogroup H (odds ratio [OR] = 1.40; 95% confidence interval [CI]: 1.20–1.64; P = 0.0005138) and D4 (odds ratio = 1.47; 95% CI: 1.22–1.77; P = 0.001064) were associated with an increased risk of T2DM in Chinese Uyghur population. Two markers of haplogroup D4 and H, MT-ATP8 m.8414 T > G (p.Leu17Phe) and m.2706 G > A encoding 16S rRNA in mitochondria, were predicted to affect the structure of MT-ATP8 and 16S RNA, respectively, and may be involved in the pathogenesis of T2DM. Our study provides a new clue for mitochondrial DNA in the etiology of T2DM in Chinese Uyghur population.

Highlights

Type 2 diabetes mellitus (T2DM) is a multi-factorial common disease affected by both genetic and environmental factors
G > A might affect RNA modifications and ribosome assembly, in Uyghur population. In this case-control study, we have identified an association between mitochondrial DNA and T2DM in Chinese Uyghur population
Mitochondrial DNA sequencing was conducted in 88 T2DM patients and 122 controls

Summary

Introduction

T2DM is a multi-factorial common disease affected by both genetic and environmental factors. Racial/ethnic factor can significantly modify the prevalence of T2DM. Often exhibit diverse even conflicting results due to different health behaviors, genetic factors and individual-level sociodemographics[16]. To investigate the association between mtDNA and T2DM in Uyghur people, we conducted a hospital-based case-control study on 210 Uyghur individuals including 88 T2DM patients and 122 controls

Methods

Results

Conclusion