Hao Xiao-Dan, Chen Peng, Wang Ye, Li Su-Xia, Xie Li-Xin
State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, Shandong Eye Institute, Shandong Academy of Medical Sciences, Qingdao, China.
Shandong Eye Hospital, Shandong Eye Institute, Shandong Academy of Medical Sciences, Jinan, China.
Exp Eye Res. 2015 Mar;132:59-63. doi: 10.1016/j.exer.2015.01.016. Epub 2015 Jan 19.
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 KC. To test whether mtDNA background and copy number confer genetic susceptibility to KC 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 KC 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.
氧化应激可能在圆锥角膜（KC）的发病机制中起作用。线粒体DNA（mtDNA）与线粒体功能密切相关，其变异可能影响活性氧（ROS）的产生，并参与KC的发病机制。为了检验mtDNA背景和拷贝数是否赋予中国汉族人群对KC的遗传易感性，我们进行了这项关联研究。我们分析了来自中国的210例KC患者和309例匹配个体的mtDNA序列变异，并按单倍群对每个受试者进行分类。在这些受试者的一个亚组（193例患者和103例对照）中测量了线粒体DNA拷贝数。病例组和对照组人群母系成分的比较未发现显著差异。然而，mtDNA拷贝数的测量显示，即使考虑年龄、性别和mtDNA背景，KC患者的mtDNA拷贝数也显著低于对照组（P = 0.0002）。我们的结果表明，与圆锥角膜相关的是mtDNA拷贝数，而非单倍群，并且mtDNA拷贝数可能在其发病机制中起作用。
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