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Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration.
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2009-01-01 , DOI: 10.1146/annurev.genom.9.081307.164350
Anand Swaroop 1 , Emily Y Chew , Catherine Bowes Rickman , Gonçalo R Abecasis
Affiliation  

Aging-associated neurodegenerative diseases significantly influence the quality of life of affected individuals. Genetic approaches, combined with genomic technology, have provided powerful insights into common late-onset diseases, such as age-related macular degeneration (AMD). Here, we discuss current findings on the genetics of AMD to highlight areas of rapid progress and new challenges. We also attempt to integrate available genetic and biochemical data with cellular pathways involved in aging to formulate an integrated model of AMD pathogenesis.

中文翻译:

解开多因素迟发性疾病:从遗传易感性到年龄相关性黄斑变性的疾病机制。

衰老相关的神经退行性疾病显着影响受影响个体的生活质量。遗传方法与基因组技术相结合,为常见的迟发性疾病(如年龄相关性黄斑变性 (AMD))提供了强有力的见解。在这里,我们将讨论有关 AMD 遗传学的当前发现,以突出快速进展和新挑战的领域。我们还尝试将可用的遗传和生化数据与参与衰老的细胞途径相结合,以制定 AMD 发病机制的综合模型。
更新日期:2009-08-28
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