From compliment to insult: genetics of the complement system in physiology and disease in the human retina

被引：15

作者：

Mullins, Robert F. ^{[1
,2
]}

Warwick, Alasdair N. ^{[3
]}

Sohn, Elliott H. ^{[1
,2
]}

Lotery, Andrew J. ^{[4
]}

机构：

[1] Univ Iowa, Dept Ophthalmol & Visual Sci, Iowa City, IA USA

[2] Univ Iowa, Stephen A Wynn Inst Vis Res, Iowa City, IA USA

[3] Imperial Coll Healthcare NHS Fdn Trust, Western Eye Hosp, London, England

[4] Univ Southampton, Fac Med, Clin & Expt Sci, Southampton, Hants, England

来源：

HUMAN MOLECULAR GENETICS | 2017年 / 26卷 / R1期

关键词：

MEMBRANE ATTACK COMPLEX; FACTOR-H POLYMORPHISM; EXPERIMENTAL AUTOIMMUNE UVEORETINITIS; INDUCED CHOROIDAL NEOVASCULARIZATION; DENSE DEPOSIT DISEASE; MACULAR-DEGENERATION; ALTERNATIVE PATHWAY; BRUCHS MEMBRANE; TARGETED INHIBITOR; REGULATORY PROTEIN;

D O I：

10.1093/hmg/ddx181

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Age-relatedmacular degeneration (AMD) is amajor cause of visual impairment that affects the central retina. Genome wide association studies and candidate gene screens have identifiedmembers 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 itmight be targeted to prevent damage to the aging choriocapillaris in AMD.

引用

页码：R51 / R57

页数：7

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