Complement factor H polymorphism in age-related macular degeneration

被引：3337
作者：
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
机构：
[1] Yale Univ, Sch Med, Dept Epidemiol & Publ Hlth, New Haven, CT 06520 USA
[2] Rockefeller Univ, Lab Stat Genet, New York, NY 10021 USA
[3] Yale Univ, Sch Med, Dept Ophthalmol & Visual Sci, New Haven, CT 06520 USA
[4] NEI, Bethesda, MD 20892 USA
[5] EMMES Corp, Rockville, MD 20850 USA
[6] Yale Univ, WM Keck Facil, New Haven, CT 06511 USA
来源：
SCIENCE | 2005年 / 308卷 / 5720期
关键词：
D O I：
10.1126/science.1109557
中图分类号：
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
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 Ask 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.
引用
收藏
页码：385 / 389
页数：5
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