Age-related macular degeneration: genome-wide association studies to translation.
Age-related macular degeneration: genome-wide association studies to translation.
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DOI：
10.1038/gim.2015.70
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发表时间：
2016-04
期刊：
影响因子：
--
通讯作者：
Clark SJ
中科院分区：
文献类型：
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作者：
Black JR;Clark SJ
近年来，全基因组关联研究（GWAS）吸引了大量投资，该研究能够分析人群中常见的遗传变异对疾病的影响。尽管发现了许多疾病的遗传变异，但它们因产生的数据很少具有临床效用而受到批评。然而，在这方面，年龄相关性黄斑变性（AMD），在西方世界最常见的失明形式，是一个显著的例外。通过GWAS，在许多位点上发现了常见的遗传变异。特别是2个基因座，包括1号染色体上的补体级联基因和10号染色体上的ARMS2/HTRA1基因，已被证明可显著增加AMD的易感性。今天，虽然有可能筛查个体对该疾病的遗传易感性，但对那些有发展AMD风险的人有效的干预策略很少。尽管如此，这一领域正在进行的研究还是很有希望的。在简要概述AMD和常见疾病遗传学之后，我们概述了AMD的最新进展，特别是通过GWAS取得的进展。最后，这些发现的真正优点及其当前和潜在的翻译价值进行了审查。遗传医学18,4,283-289。
In recent years, genome-wide association studies (GWAS), which are able to analyze the contribution to disease of genetic variations that are common within a population, have attracted considerable investment. Despite identifying genetic variants for many conditions, they have been criticized for yielding data with minimal clinical utility. However, in this regard, age-related macular degeneration (AMD), the most common form of blindness in the Western world, is a striking exception. Through GWAS, common genetic variants at a number of loci have been discovered. Two loci in particular, including genes of the complement cascade on chromosome 1 and the ARMS2/HTRA1 genes on chromosome 10, have been shown to convey significantly increased susceptibility to developing AMD. Today, although it is possible to screen individuals for a genetic predisposition to the disease, effective interventional strategies for those at risk of developing AMD are scarce. Ongoing research in this area is nonetheless promising. After providing brief overviews of AMD and common disease genetics, we outline the main recent advances in the understanding of AMD, particularly those made through GWAS. Finally, the true merit of these findings and their current and potential translational value is examined. Genet Med 18 4, 283–289.