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Science. 2005 Apr 15;308(5720):362-4.
Complement factor H polymorphism in age-related macular degeneration.
Klein RJ,
Zeiss C,
Chew EY,
Tsai JY,
Sackler RS,
Haynes C,
Henning AK,
SanGiovanni JP,
Mane SM,
Mayne ST,
Bracken MB,
Ferris FL,
Ott J,
Barnstable C,
Hoh J.
Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA.
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.
PMID: 15761122 [PubMed - indexed for MEDLINE]
PMCID: PMC1512523