Mitochondrial DNA copy number, but not haplogroup is associated with keratoconus in Han Chinese population
Mitochondrial DNA copy number, but not haplogroup is associated with keratoconus in Han Chinese population
复制标题
DOI：
10.1016/j.exer.2015.01.016
复制
发表时间：
2015-03-01
影响因子：
3.4
通讯作者：
Xie, Li-Xin
中科院分区：
文献类型：
--
作者：
Hao, Xiao-Dan;Chen, Peng;Xie, Li-Xin
氧化应激可能在圆锥角膜（KC）的发病机制中起一定作用。线粒体DNA（mitochondrialDNA，mtDNA）与线粒体功能密切相关，其变异可能影响活性氧（reactiveoxygenspecies，ROS）的产生，参与MC的发病过程。为了验证mtDNA背景和拷贝数是否与中国汉族人群中MC的遗传易感性有关，我们进行了这项关联研究。我们分析了210名KC患者和309名中国匹配个体的mtDNA序列变异，并按单倍型组对每个受试者进行分类。在这些受试者的一个子集（193例患者和103例对照）中测量线粒体DNA拷贝数。病例和对照人群的母系成分比较显示无显着差异。然而，线粒体DNA拷贝数的测量显示，MC患者的线粒体DNA拷贝数显著低于对照组（P = 0.0002），即使考虑到年龄，性别和线粒体DNA背景。我们的研究结果表明，mtDNA拷贝数，而不是单倍型，与圆锥角膜，并可能有助于其发病机制。(C)2015爱思唯尔有限公司版权所有。
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.