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Complement Factor H Polymorphism in Age-Related Macular Degeneration

Robert J. Klein, Caroline J. Zeiss, Emily Y. Chew, Jen-Yue Tsai, Richard S. Sackler, Chad Haynes, Alice K. Henning, John Paul SanGiovanni, Shrikant Mane, Susan T. Mayne, Michael B. Bracken, Frederick L. Ferris, Jürg Ott, Colin J. Barnstable, Josephine Hoh

Science · 2005 · ▲ 4,510 citations

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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.

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Provenance

Source: OpenAlex
DOI: 10.1126/science.1109557
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Fetched: 2026-05-31 MST

Cite this

APA

Klein, R.J., Zeiss, C.J., Chew, E.Y., Tsai, J., Sackler, R.S., Haynes, C., Henning, A.K., SanGiovanni, J.P., Mane, S., Mayne, S.T., Bracken, M.B., Ferris, F.L., Ott, J., Barnstable, C.J., & Hoh, J. (2005). Complement Factor H Polymorphism in Age-Related Macular Degeneration. <em>Science</em>. https://doi.org/10.1126/science.1109557

Vancouver

Klein RJ, Zeiss CJ, Chew EY, Tsai J, Sackler RS, Haynes C, et al. Complement Factor H Polymorphism in Age-Related Macular Degeneration. Science. 2005. doi:10.1126/science.1109557.

BibTeX

@article{robert2005Comple, title = {Complement Factor H Polymorphism in Age-Related Macular Degeneration}, author = {Robert J. Klein and Caroline J. Zeiss and Emily Y. Chew and Jen-Yue Tsai and Richard S. Sackler and Chad Haynes and Alice K. Henning and John Paul SanGiovanni and Shrikant Mane and Susan T. Mayne and Michael B. Bracken and Frederick L. Ferris and Jürg Ott and Colin J. Barnstable and Josephine Hoh}, journal = {Science}, year = {2005}, doi = {10.1126/science.1109557}, }