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

doi:10.1126/science.1133807

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 journal › Article › peer-review

749 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 language	English (US)
Pages (from-to)	989-992
Number of pages	4
Journal	Science
Volume	314
Issue number	5801
DOIs	https://doi.org/10.1126/science.1133807
State	Published - Nov 10 2006
Externally published	Yes

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title = "HTRA1 promoter polymorphism in wet age-related macular degeneration",

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.",

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

year = "2006",

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doi = "10.1126/science.1133807",

language = "English (US)",

volume = "314",

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publisher = "American Association for the Advancement of Science",

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TY - JOUR

T1 - HTRA1 promoter polymorphism in wet age-related macular degeneration

AU - DeWan, Andrew

AU - Liu, Mugen

AU - Hartman, Stephen

AU - Zhang, Samuel Shao Min

AU - Liu, David T.L.

AU - Zhao, Connie

AU - Tam, Pancy O.S.

AU - Chan, Wai Man

AU - Lam, Dennis S.C.

AU - Snyder, Michael

AU - Barnstable, Colin

AU - Pang, Chi Pui

AU - Hoh, Josephine

PY - 2006/11/10

Y1 - 2006/11/10

N2 - 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.

AB - 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.

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JO - Science

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HTRA1 promoter polymorphism in wet age-related macular degeneration

Abstract

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