| The complement component 5 gene and age-related macular degeneration. | |
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MedLine Citation:
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PMID: 20022638 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To investigate the association between variants in the complement component 5 (C5) gene and age-related macular degeneration (AMD). DESIGN: Separate and combined data from 3 large AMD case-control studies and a prospective population-based study (The Rotterdam Study). PARTICIPANTS: A total of 2599 AMD cases and 3458 ethnically matched controls. METHODS: Fifteen single nucleotide polymorphisms (SNPs) spanning the C5 gene were initially genotyped in 375 cases and 199 controls from The Netherlands (The Amsterdam/Rotterdam-Netherlands [AMRO-NL] study population). Replication testing of selected SNPs was performed in the Rotterdam Study (NL) and study populations from Southampton, United Kingdom (UK), and New York, United States (US). MAIN OUTCOME MEASURES: Early and late stages of prevalent and incident AMD, graded according to (a modification of) the international grading and classification system of AMD. RESULTS: Significant allelic or genotypic associations between 8 C5 SNPs and AMD were found in the AMRO-NL study and this risk seemed to be independent of CFH Y402H, LOC387715 A69S, age, and gender. None of these findings could be confirmed consistently in 3 replication populations. CONCLUSIONS: Although the complement pathway, including C5, plays a crucial role in AMD, and the C5 protein is present in drusen, no consistent significant associations between C5 SNPs and AMD were found in any of these studies. The implications for genetic screening of AMD are discussed. |
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Authors:
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Dominique C Baas; Lintje Ho; Sarah Ennis; Joanna E Merriam; Michael W T Tanck; André G Uitterlinden; Paulus T V M de Jong; Angela J Cree; Helen L Griffiths; Fernando Rivadeneira; Albert Hofman; Cornelia van Duijn; R Theodore Smith; Gaetano R Barile; Theo G M F Gorgels; Johannes R Vingerling; Caroline C W Klaver; Andrew J Lotery; Rando Allikmets; Arthur A B Bergen |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2009-12-22 |
Journal Detail:
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Title: Ophthalmology Volume: 117 ISSN: 1549-4713 ISO Abbreviation: Ophthalmology Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-01 Completed Date: 2010-03-19 Revised Date: 2011-07-25 |
Medline Journal Info:
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Nlm Unique ID: 7802443 Medline TA: Ophthalmology Country: United States |
Other Details:
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Languages: eng Pagination: 500-11 Citation Subset: IM |
Copyright Information:
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Copyright 2010 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aged Case-Control Studies Complement C5 / genetics* Female Genotype Humans Macular Degeneration / genetics* Male Polymorphism, Single Nucleotide* Prospective Studies |
| Grant Support | |
ID/Acronym/Agency:
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EY017404/EY/NEI NIH HHS; EY13435/EY/NEI NIH HHS; R01 EY013435-01/EY/NEI NIH HHS; R01 EY013435-01S1/EY/NEI NIH HHS; R01 EY013435-02/EY/NEI NIH HHS; R01 EY013435-03/EY/NEI NIH HHS; R01 EY013435-04A1/EY/NEI NIH HHS; R01 EY013435-04A1S1/EY/NEI NIH HHS; R01 EY013435-05/EY/NEI NIH HHS; R01 EY013435-06/EY/NEI NIH HHS; R01 EY013435-07/EY/NEI NIH HHS; R01 EY013435-08/EY/NEI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Complement C5 |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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