Mitochondrial DNA copy number, but not haplogroup is associated with keratoconus in Han Chinese population

被引:9
作者
Hao, Xiao-Dan [1 ]
Chen, Peng [1 ]
Wang, Ye [1 ]
Li, Su-Xia [2 ]
Xie, Li-Xin [1 ]
机构
[1] Shandong Acad Med Sci, Shandong Eye Inst, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol, Qingdao, Peoples R China
[2] Shandong Acad Med Sci, Shandong Eye Inst, Shandong Eye Hosp, Jinan, Peoples R China
基金
中国国家自然科学基金;
关键词
Keratoconus; mtDNA; Copy number; Haplogroup; Association study; HUMAN EYE; DELETION; DIFFERENTIATION; GENERATION; SEQUENCE; REGION; LHON;
D O I
10.1016/j.exer.2015.01.016
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
Oxidative stress may play a role in the pathogenesis of keratoconus (KC). Mitochondrial DNA (mtDNA) is closely related to mitochondrion function, and variations may affect the generation of reactive oxygen species (ROS) and be involved in the pathogenesis of MC. To test whether mtDNA background and copy number confer genetic susceptibility to MC in the Han Chinese population, we performed this association study. We analyzed mtDNA sequence variations in 210 KC patients and 309 matched individuals from China, and classified each subject by haplogroup. Mitochondrial DNA copy number was measured in a subset of these subjects (193 patients and 103 controls). Comparison of matrilineal components of the cases and control populations revealed no significant difference. However, measurement of mtDNA copy number showed that MC patients had significantly lower mtDNA copy numbers than controls (P = 0.0002), even when age, gender, and mtDNA background were considered. Our results suggest that mtDNA copy number, but not haplogroup, is associated with keratoconus, and may contribute to its pathogenesis. (C) 2015 Elsevier Ltd. All rights reserved.
引用
收藏
页码:59 / 63
页数:5
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