Genomic aspects of age-related macular degeneration

被引：45

作者：

Horie-Inoue, Kuniko ^{[1
]}

Inoue, Satoshi ^{[1
,2
]}

机构：

[1] Saitama Med Univ, Res Ctr Genom Med, Div Gene Regulat & Signal Transduct, Hidaka City, Saitama 3501231, Japan

[2] Univ Tokyo, Grad Sch Med, Dept Antiaging Med, Tokyo, Japan

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 2014年 / 452卷 / 02期

关键词：

Age-related macular degeneration (AMD); Complement factor H (CFH); Age-related maculopathy susceptibility; protein 2 (ARMS2); HTRA1; Genome-wide association study (GWAS); Single nucleotide polymorphism (SNP); COMPLEMENT-FACTOR-H; RETINAL-PIGMENT EPITHELIUM; POLYPOIDAL CHOROIDAL VASCULOPATHY; HTRA1 PROMOTER POLYMORPHISM; CHROMOSOME; 10Q26; LOCUS; CIGARETTE-SMOKING; WIDE ASSOCIATION; JAPANESE POPULATION; GENE POLYMORPHISM; RISK-FACTORS;

D O I：

10.1016/j.bbrc.2014.08.013

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-related macular degeneration (AMD) is a major late-onset posterior eye disease that causes central vision to deteriorate among elderly populations. The predominant lesion of AMD is the macula, at the interface between the outer retina and the inner choroid. Recent advances in genetics have revealed that inflammatory and angiogenic pathways play critical roles in the pathophysiology of AMD. Genome-wide association studies have identified ARMS2/HTRA1 and CFH as major AMD susceptibility genes. Genetic studies for AMD will contribute to the prevention of central vision loss, the development of new treatment, and the maintenance of quality of vision for productive aging. (C) 2014 Elsevier Inc. All rights reserved.

引用

页码：263 / 275

页数：13

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