年龄相关性黄斑变性的病因研究

Recent advance of the study on age-related macular degeneration

年龄相关性黄斑变性(age-related macular degeneration,AMD)是发达国家老年人致盲的主要原因,在我国其发病率也呈上升趋势。它是一种由环境和遗传共同作用所导致的复杂性疾病。患病率随年龄的增加而增加。吸烟是明确的危险因素。应用基因组连锁扫描和关联分析,已经发现多个潜在的致病基因。补体因子H与AMD的关系提示替代补体途径在AMD发生发展过程中的重要作用。PLEKHA1/LOC387715/HTRA1基因位点的变异也是AMD发病的主要危险因素。理解环境和遗传因素之间的交互作用将有利于AMD预防措施和治疗手段的探索。本文对目前AMD的流行病学,发病机制和病因学的进展进行综述。

Age-related macular degeneration （AMD） is the leading cause of blindness in industrialized countries and the incidence is rising in China. caused by the combination AMD is a complex disease of environmental factors and genetic predisposition. The prevalence of AMD increases with age. The adverse effect of smoking is well established. Using genome linkage scan and association studies, multiple potentially causative genes have been identified. The association of complement factor H with AMD highlights the importance of the alternative complement pathway in the development of AMD. Variants in the gene for PLEKHA1/LOC387715/HTRA1 have been implicated as a major risk for the development of AMD. Understanding the causative environmental and genetic interactions will facilitate the development of future preventive methods and treatments. We reviewed the urrent studies of epidemiology, pathogenesis and etiology of AMD.