HTRA1 promoter polymorphism in wet age-related macular degeneration

Andrew DeWan, Mugen Liu, Stephen Hartman, Samuel Shao Min Zhang, David T.L. Liu, Connie Zhao, Pancy O.S. Tam, Wai Man Chan, Dennis S.C. Lam, Michael Snyder, Colin Barnstable, Chi Pui Pang, Josephine Hoh

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648 Scopus citations

Abstract

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-nudeotide 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.

Original languageEnglish (US)
Pages (from-to)989-992
Number of pages4
JournalScience
Volume314
Issue number5801
DOIs
StatePublished - Nov 10 2006
Externally publishedYes

ASJC Scopus subject areas

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    DeWan, A., Liu, M., Hartman, S., Zhang, S. S. M., Liu, D. T. L., Zhao, C., Tam, P. O. S., Chan, W. M., Lam, D. S. C., Snyder, M., Barnstable, C., Pang, C. P., & Hoh, J. (2006). HTRA1 promoter polymorphism in wet age-related macular degeneration. Science, 314(5801), 989-992. https://doi.org/10.1126/science.1133807