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Complement Factor H Polymorphism in Age-Related Macular Degeneration

Published:2005-04-15 Issue:5720 Volume:308 Page:385-389
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Klein Robert J.¹²³⁴⁵,Zeiss Caroline¹²³⁴⁵,Chew Emily Y.¹²³⁴⁵,Tsai Jen-Yue¹²³⁴⁵,Sackler Richard S.¹²³⁴⁵,Haynes Chad¹²³⁴⁵,Henning Alice K.¹²³⁴⁵,SanGiovanni John Paul¹²³⁴⁵,Mane Shrikant M.¹²³⁴⁵,Mayne Susan T.¹²³⁴⁵,Bracken Michael B.¹²³⁴⁵,Ferris Frederick L.¹²³⁴⁵,Ott Jurg¹²³⁴⁵,Barnstable Colin¹²³⁴⁵,Hoh Josephine¹²³⁴⁵

Affiliation:

1. Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA.

2. Department of Ophthalmology and Visual Science, Yale University School of Medicine, 330 Cedar Street, New Haven, CT 06520, USA.

3. National Eye Institute, Building 10, CRC, 10 Center Drive, Bethesda, MD 20892-1204, USA.

4. Biological Imaging Core, National Eye Institute, 9000 Rockville Pike, Bethesda, MD 20892, USA.

5. The EMMES Corporation, 401 North Washington Street, Suite 700, Rockville MD 20850, USA.

Abstract

Age-related macular degeneration (AMD) is a major cause of blindness in the elderly. We report a genome-wide screen of 96 cases and 50 controls for polymorphisms associated with AMD. Among 116,204 single-nucleotide polymorphisms genotyped, an intronic and common variant in the complement factor H gene ( CFH ) is strongly associated with AMD (nominal P value <10 -7 ). In individuals homozygous for the risk allele, the likelihood of AMD is increased by a factor of 7.4 (95% confidence interval 2.9 to 19). Resequencing revealed a polymorphism in linkage disequilibrium with the risk allele representing a tyrosine-histidine change at amino acid 402. This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference33 articles.

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