HTRA1 promoter polymorphism in wet age-related macular degeneration
| Autor: | Colin J. Barnstable, Andrew T. DeWan, Dennis S.C. Lam, Pancy O. S. Tam, Samuel Shao Min Zhang, M.–G. Liu, Connie Zhao, Michael Snyder, David T.L. Liu, Chi Pui Pang, Sara J. Hartman, Josephine Hoh, Wai-Man Chan |
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| Rok vydání: | 2006 |
| Předmět: |
Male
Linkage disequilibrium medicine.medical_specialty Aging Chromatin Immunoprecipitation Serum Response Factor genetic structures Genotype Biology Drusen Retinal Neovascularization Polymorphism Single Nucleotide Linkage Disequilibrium Macular Degeneration Asian People Polymorphism (computer science) Internal medicine medicine Humans Genetic Predisposition to Disease Risk factor Association mapping Promoter Regions Genetic Gene Aged Genetics Aged 80 and over Multidisciplinary Chromosomes Human Pair 10 Serine Endopeptidases High-Temperature Requirement A Serine Peptidase 1 Macular degeneration Middle Aged medicine.disease eye diseases Ophthalmology Endocrinology Transcription Factor AP-2 Ageing HTRA1 Female sense organs HeLa Cells |
| Zdroj: | Science (New York, N.Y.). 314(5801) |
| ISSN: | 1095-9203 |
| Popis: | 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 –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. |
| Databáze: | OpenAIRE |
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