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

Research output: Contribution to journalArticle

634 Citations (Scopus)

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

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Macular Degeneration
Genotype
Complement Factor H
Chromosome Mapping
Serine Proteases
Genetic Promoter Regions
Genes
Chromosomes
Population

All Science Journal Classification (ASJC) codes

  • General

Cite this

DeWan, A., Liu, M., Hartman, S., Zhang, S. S. M., Liu, D. T. L., Zhao, C., ... Hoh, J. (2006). HTRA1 promoter polymorphism in wet age-related macular degeneration. Science, 314(5801), 989-992. https://doi.org/10.1126/science.1133807
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. / HTRA1 promoter polymorphism in wet age-related macular degeneration. In: Science. 2006 ; Vol. 314, No. 5801. pp. 989-992.
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DeWan, A, Liu, M, Hartman, S, Zhang, SSM, Liu, DTL, Zhao, C, Tam, POS, Chan, WM, Lam, DSC, Snyder, M, Barnstable, C, Pang, CP & Hoh, J 2006, 'HTRA1 promoter polymorphism in wet age-related macular degeneration', Science, vol. 314, no. 5801, pp. 989-992. https://doi.org/10.1126/science.1133807

HTRA1 promoter polymorphism in wet age-related macular degeneration. / 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, Vol. 314, No. 5801, 10.11.2006, p. 989-992.

Research output: Contribution to journalArticle

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AU - Zhao, Connie

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DeWan A, Liu M, Hartman S, Zhang SSM, Liu DTL, Zhao C et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006 Nov 10;314(5801):989-992. https://doi.org/10.1126/science.1133807