Association of mitochondrial DNA variation with high myopia in a Han Chinese population

Author:

Xing Shilai,Jiang Siyi,Wang Siyu,Lin Peng,Sun Haojun,Peng Hui,Yang Jiaying,Kong Hengte,Wang Sheng,Bai Qingshi,Qiu Ruowen,Dai Wei,Yuan Jian,Ma Yunlong,Yu Xiaoguang,Yao Yinghao,Su JianzhongORCID,

Abstract

AbstractHigh myopia (HM), which is characterized by oxidative stress, is one of the leading causes of visual impairment and blindness across the world. Family and population genetic studies have uncovered nuclear-genome variants in proteins functioned in the mitochondria. However, whether mitochondrial DNA mutations are involved in HM remains unexplored. Here, we performed the first large-scale whole-mitochondrial genome study in 9613 HM cases and 9606 control subjects of Han Chinese ancestry for identifying HM-associated mitochondrial variants. The single-variant association analysis identified nine novel genetic variants associated with HM reaching the entire mitochondrial wide significance level, including rs370378529 in ND2 with an odds ratio (OR) of 5.25. Interestingly, eight out of nine variants were predominantly located in related sub-haplogroups, i.e. m.5261G > A in B4b1c, m.12280A > G in G2a4, m.7912G > A in D4a3b, m.94G > A in D4e1, m.14857 T > C in D4e3, m.14280A > G in D5a2, m.16272A > G in G2a4, m.8718A > G in M71 and F1a3, indicating that the sub-haplogroup background can increase the susceptible risk for high myopia. The polygenic risk score analysis of the target and validation cohorts indicated a high accuracy for predicting HM with mtDNA variants (AUC = 0.641). Cumulatively, our findings highlight the critical roles of mitochondrial variants in untangling the genetic etiology of HM.

Funder

the National Natural Science Foundation of China

Zhejiang Provincial Natural Science Foundation of China

the Scientific Research Foundation of Wenzhou Medical University

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

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