Abu-Amero Khaled K, Azad Taif Anwar, Sultan Tahira, Kalantan Hatem, Kondkar Altaf A, Al-Muammar Abdulrahman M
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Invest Ophthalmol Vis Sci. 2014 May 1;55(5):2827-31. doi: 10.1167/iovs.14-14300.
Keratoconic corneas exhibit more mitochondrial DNA (mtDNA) damage than do normal corneas and thus mtDNA may represent a potential candidate for genetic susceptibility studies in keratoconus. To test this hypothesis we determined mitochondrial haplogroups in Saudi patients with keratoconus and healthy controls of same ethnicity.
Mitochondrial haplogrouping was performed by polymerase chain reaction-based automated Sanger sequencing in 114 patients with keratoconus and 552 healthy controls.
Mitochondrial haplogroups H and R were significantly overrepresented in patients with keratoconus (28.9% vs. 8.5%, P < 0.0001 and 17.5% vs. 3.1%, P < 0.0001, respectively) as compared to healthy controls.
Our data suggest that individuals with mitochondrial haplogroups H and R are at increased risk to develop keratoconus. In addition, the results provide further evidence for a plausible role of mtDNA in keratoconus etiology.
圆锥角膜比正常角膜表现出更多的线粒体DNA（mtDNA）损伤，因此mtDNA可能是圆锥角膜遗传易感性研究的一个潜在候选因素。为了验证这一假设，我们测定了沙特圆锥角膜患者和相同种族健康对照者的线粒体单倍群。
采用基于聚合酶链反应的自动桑格测序法对114例圆锥角膜患者和552例健康对照者进行线粒体单倍群分型。
与健康对照者相比，圆锥角膜患者中线粒体单倍群H和R的比例显著过高（分别为28.9%对8.5%，P<0.0001；17.5%对3.1%，P<0.0001）。
我们的数据表明，线粒体单倍群H和R的个体患圆锥角膜的风险增加。此外，结果为mtDNA在圆锥角膜病因学中可能发挥的作用提供了进一步的证据。
