非裔美国人原发性开角型青光眼的遗传学
Primary Open-Angle Glaucoma Genetics in African Americans.
作者信息
Restrepo Nicole A, Cooke Bailey Jessica N
机构信息
Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH.
出版信息
Curr Genet Med Rep. 2017 Dec;5(4):167-174. doi: 10.1007/s40142-017-0131-8. Epub 2017 Oct 11.
PURPOSE OF REVIEW
Individuals of African descent are at highest risk for developing primary open-angle glaucoma (POAG), a devastating disease and major contributor of blindness worldwide. Currently, there is a large dearth of knowledge in this area despite a critical need for better understanding the underlying genetic and environmental factors afflicting this population. Here we highlight the current literature exploring the genetics of POAG in African Americans.
RECENT FINDINGS
Current studies have yet to replicate European POAG index variants (i.e. and ) in African Americans or to definitely exclude that these loci contribute to risk in African descent populations. Recent studies have evaluated clinical features that may account for some differences in POAG risk between African Americans and European Americans.
SUMMARY
In summary, little headway has been made in elucidating the genetics of primary open-angle glaucoma in African Americans and other individuals of African descent.
综述目的
非洲裔个体患原发性开角型青光眼（POAG）的风险最高，POAG是一种破坏性疾病，也是全球失明的主要原因。目前，尽管迫切需要更好地了解影响该人群的潜在遗传和环境因素，但该领域仍存在大量知识空白。在此，我们重点介绍当前探索非裔美国人POAG遗传学的文献。
最新发现
目前的研究尚未在非裔美国人中复制欧洲POAG指数变体（即 和 ），也未能明确排除这些基因座对非洲裔人群患病风险的影响。最近的研究评估了一些临床特征，这些特征可能解释了非裔美国人和欧洲裔美国人在POAG风险上的一些差异。
总结
总之，在阐明非裔美国人和其他非洲裔个体原发性开角型青光眼的遗传学方面进展甚微。
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