HTRA1 promoter polymorphism in wet age-related macular degeneration by Dewan Andrew, Liu Mugen, Hartman Stephen, Zhang Samuel Shao-Min, Liu David T L, Zhao Connie, Tam Pancy O S, Chan Wai Man, Lam Dennis S C, Snyder Michael, Barnstable Colin, Pang Chi Pui, Hoh Josephine in Science (New York, N.Y.) (2006).

[PMID: 17053108] PubMed


Age-related macular degeneration (AMD), the most common cause of irreversible vision loss in individuals aged older than 50 years, is classified as either wet (neovascular) or dry (nonneovascular). Inherited variation in the complement factor H gene is a major risk factor for drusen in dry AMD. Here we report that a single-nucleotide polymorphism in the promoter region of HTRA1, a serine protease gene on chromosome 10q26, is a major genetic risk factor for wet AMD. A whole-genome association mapping strategy was applied to a Chinese population, yielding a P value of <10(-11). Individuals with the risk-associated genotype were estimated to have a likelihood of developing wet AMD 10 times that of individuals with the wild-type genotype.

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