Abu-Amero Khaled K, González Ana M, Osman Essam A, Larruga José M, Cabrera Vicente M, Al-Obeidan Saleh A
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Mol Vis. 2011;17:2171-6. Epub 2011 Aug 12.
In a previous preliminary analysis we reported that mitochondrial DNA (mtDNA) haplogroup R0a was significantly more frequent in primary angle closure glaucoma (PACG) Saudi patients than in healthy Saudi controls. This result prompted us to extend our work using a significant larger Saudi PACG cohort and more healthy controls.
We sequenced the mtDNA regulatory hypervariable region-I (HVS-I) and coding regions, comprising haplogroup diagnostic polymorphisms, in 227 PACG Saudi patients and compared their haplogroup frequencies with those obtained from 186 matched healthy controls (free of PACG by examination) and from a large sample of 810 healthy Saudi Arabs representing the general Saudi population.
MtDNA Haplogroups R0a and J, the most abundant lineages in Saudi Arabia, were in significant higher frequencies in the PACG patients than in controls, while the widespread western Eurasian haplogroup U was associated with reduced risk to developing PACG.
Haplogroups R0a and J could be ancestry informative markers for PACG in the Saudi Arabian population. In addition, the western Eurasian haplogroup U may play a mild protective effect to this illness.
在之前的一项初步分析中，我们报告称原发性闭角型青光眼（PACG）沙特患者中线粒体DNA（mtDNA）单倍群R0a的出现频率显著高于健康的沙特对照人群。这一结果促使我们使用规模显著更大的沙特PACG队列和更多健康对照来扩展我们的研究。
我们对227例沙特PACG患者的mtDNA调控高变区-I（HVS-I）和编码区进行了测序，这些区域包含单倍群诊断多态性，并将他们的单倍群频率与186例匹配的健康对照（经检查无PACG）以及来自代表沙特普通人群的810例沙特阿拉伯健康人大样本中获得的频率进行了比较。
mtDNA单倍群R0a和J是沙特阿拉伯最常见的谱系，在PACG患者中的出现频率显著高于对照，而广泛分布于欧亚大陆西部的单倍群U与发生PACG的风险降低相关。
单倍群R0a和J可能是沙特阿拉伯人群中PACG的祖先信息标记。此外，欧亚大陆西部单倍群U可能对这种疾病起到轻度保护作用。
