从补体到损伤：人类视网膜生理与疾病中补体系统的遗传学
From compliment to insult: genetics of the complement system in physiology and disease in the human retina.
作者信息
Mullins Robert F, Warwick Alasdair N, Sohn Elliott H, Lotery Andrew J
机构信息
Department of Ophthalmology and Visual Sciences.
Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA, USA.
出版信息
Hum Mol Genet. 2017 Aug 1;26(R1):R51-R57. doi: 10.1093/hmg/ddx181.
Abstract
Age-related macular degeneration (AMD) is a major cause of visual impairment that affects the central retina. Genome wide association studies and candidate gene screens have identified members of the complement pathway as contributing to the risk of AMD. In this review, we discuss the complement system, its importance in retinal development and normal physiology, how its dysregulation may contribute to disease, and how it might be targeted to prevent damage to the aging choriocapillaris in AMD.
摘要
年龄相关性黄斑变性（AMD）是影响视网膜中央区域的视力损害的主要原因。全基因组关联研究和候选基因筛查已确定补体途径的成员与AMD风险有关。在本综述中，我们讨论补体系统、其在视网膜发育和正常生理中的重要性、其失调如何导致疾病，以及如何针对它来预防AMD中衰老脉络膜毛细血管的损伤。
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