Abu-Amero Khaled K, Hauser Michael A, Mohamed Gamal, Liu Yutao, Gibson Jason, Gonzalez Ana M, Akafo Stephen, Allingham R Rand
Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Mol Vis. 2012;18:1955-9. Epub 2012 Jul 18.
Prevalence rates for primary open-angle glaucoma (POAG) are significantly higher in Africans than in European or Asians. It has been reported recently that mitochondrial DNA (mtDNA) lineages of African origin, excluding L2, conferred susceptibility to POAG in Saudi Arabia. This prompted us to test the role of mtDNA haplogroups in the incidence of POAG in the Ghanaian population who has a high frequency of L2 lineages.
DNA was extracted from two independent cohorts of clinically diagnosed POAG patients (n=373) and healthy controls (n=451). All patients and controls were from Accra and Tema (the southern region of Ghana). The hypervariable region-I (HVS-I) and coding regions comprising mtDNA haplogroup diagnostic polymorphisms were polymerase chain reaction (PCR) amplified and sequenced in all patients and controls and the haplotypes obtained were assorted into haplogroups and their frequencies compared between cohorts.
No statistically significant differences were found in mtDNA haplogroup frequencies between POAG patients and matched controls in this cohort for the various mtDNA haplogroups tested.
In this Ghanaian cohort, mtDNA haplogroups do not seem to confer susceptibility to POAG.
原发性开角型青光眼（POAG）在非洲人的患病率显著高于欧洲人或亚洲人。最近有报道称，在沙特阿拉伯，除L2外的非洲起源线粒体DNA（mtDNA）谱系会使人易患POAG。这促使我们在L2谱系频率较高的加纳人群中测试mtDNA单倍群在POAG发病中的作用。
从两个独立队列中提取DNA，一个队列是临床诊断为POAG的患者（n = 373），另一个队列是健康对照者（n = 451）。所有患者和对照者均来自阿克拉和特马（加纳南部地区）。对所有患者和对照者的高变区-I（HVS-I）以及包含mtDNA单倍群诊断多态性的编码区进行聚合酶链反应（PCR）扩增和测序，并将获得的单倍型分类为单倍群，比较各队列之间的频率。
在该队列中，针对所测试的各种mtDNA单倍群，POAG患者与匹配的对照者之间在mtDNA单倍群频率上未发现统计学上的显著差异。
在这个加纳队列中，mtDNA单倍群似乎不会使人易患POAG。
