Liu Yutao, Akafo Stephen, Santiago-Turla Cecile, Cohen Claudia S, Larocque-Abramson Karen R, Qin Xuejun, Herndon Leon W, Challa Pratap, Schmidt Silke, Hauser Michael A, Allingham R Rand
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.
Mol Vis. 2008;14:2367-72. Epub 2008 Dec 18.
Coding variants in the optineurin gene (OPTN, GLC1E) have been reported to play a role in primary open-angle glaucoma (POAG) in various populations. This study investigated the role of OPTN sequence variants in patients with POAG in Ghana (West Africa).
This is a case-control study of unrelated Ghanaian POAG cases and non-glaucomatous controls. Ascertainment criteria for POAG included the presence of glaucomatous optic nerve neuropathy, associated visual field loss, and elevated intraocular pressure (IOP) in both eyes, all in the absence of secondary causes of glaucoma. Controls had normal optic nerves, visual fields, and IOP. All the coding exons of OPTN were polymerase chain reaction (PCR) amplified and sequenced in all 140 cases and 130 controls using an ABI 3730 DNA analyzer.
All the coding exons of OPTN were sequenced in 140 POAG patients and 130 controls. Several coding variants were identified including M98K, A134A, V147L, P292P, A301G, S321S, and E322K. Three coding variants (V147L, P292P, and A301G) have not been reported previously. There were no significant differences on the frequencies of all the identified variants between POAG cases and controls in this population.
This is the first comprehensive study of OPTN in a single West African population. Our results suggest that coding variants in OPTN may not contribute to the risk for POAG in persons of West African descent.
在不同人群中，已报道视神经元基因（OPTN，GLC1E）中的编码变体在原发性开角型青光眼（POAG）中起作用。本研究调查了OPTN序列变体在加纳（西非）POAG患者中的作用。
这是一项针对不相关的加纳POAG病例和非青光眼对照的病例对照研究。POAG的确诊标准包括青光眼性视神经病变、相关的视野缺损以及双眼眼压升高（IOP），且均无青光眼的继发原因。对照组的视神经、视野和眼压均正常。使用ABI 3730 DNA分析仪对所有140例病例和130例对照进行OPTN所有编码外显子的聚合酶链反应（PCR）扩增和测序。
对140例POAG患者和130例对照进行了OPTN所有编码外显子的测序。鉴定出了几种编码变体，包括M98K、A134A、V147L、P292P、A301G、S321S和E322K。三种编码变体（V147L、P292P和A301G）此前未见报道。在该人群中，POAG病例和对照之间所有鉴定出的变体频率没有显著差异。
这是首次对单一西非人群进行的OPTN综合研究。我们的结果表明，OPTN中的编码变体可能不会增加西非裔人群患POAG的风险。
