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The molecular genetic basis of age-related macular degeneration: an overview

机译：年龄相关性黄斑变性的分子遗传学基础：概述

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摘要

Age-related macular degeneration (AMD) is a complex disorder of the eye and the third leading cause of blindness worldwide. With a multifactorial etiology, AMD results in progressive loss of central vision affecting the macular region of the eye in elderly. While the prevalence is relatively higher in the Caucasian populations, it has gradually become a major public health issue among the non-Caucasian populations (including Indians) as well due to senescence, rapidly changing demographics and life-style factors. Recent genome-wide association studies (GWAS) on large case-control cohorts have helped in mapping genes in the complement cascade that are involved in the regulation of innate immunity with AMD susceptibility. Genes involved with mitochondrial oxidative stress and extracellular matrix regulation also play a role in AMD pathogenesis. Majority of the associations observed in complement (CFH, CFB, C2 and C3) and other (ARMS2 and HTRA1) genes have been replicated in diverse populations worldwide. Gene-gene (CFH with ARMS2 and HTRA1) interactions and correlations with environmental traits (smoking and body mass index) have been established as significant covariates in AMD pathology. In this review, we have provided an overview on the underlying molecular genetic mechanisms in AMD worldwide and highlight the AMD-associated-candidate genes and their potential role in disease pathogenesis.
机译：与年龄有关的黄斑变性（AMD）是一种复杂的眼疾，是世界范围内失明的第三大主要原因。由于病因多种多样，AMD会导致中枢视力逐渐丧失，从而影响老年人的眼睛黄斑区域。尽管高加索人的患病率相对较高，但由于衰老，人口结构的快速变化和生活方式因素，它已逐渐成为非高加索人（包括印度人）中的主要公共卫生问题。最近有关大型病例对照队列的全基因组关联研究（GWAS）已帮助定位了补体级联反应中涉及先天性免疫和AMD易感性调节的基因。涉及线粒体氧化应激和细胞外基质调节的基因在AMD发病机理中也起作用。在补体（CFH，CFB，C2和C3）和其他（ARMS2和HTRA1）基因中观察到的大多数关联已在世界各地的不同人群中复制。基因-基因（具有ARMS2和HTRA1的CFH）与环境特征（吸烟和体重指数）的相互作用和相关性已被确定为AMD病理学的重要协变量。在这篇综述中，我们提供了有关全球AMD潜在分子遗传机制的概述，并重点介绍了AMD相关候选基因及其在疾病发病机理中的潜在作用。

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