Complement factor H variant increases the risk of age-related macular degeneration

被引：1905
作者：
Haines, JL
Hauser, MA
Schmidt, S
Scott, WK
Olson, LM
Gallins, P
Spencer, KL
Kwan, SY
Noureddine, M
Gilbert, JR
Schnetz-Boutaud, N
Agarwal, A
Postel, EA
Pericak-Vance, MA
机构：
[1] Duke Univ, Med Ctr, Ctr Human Genet, Durham, NC 27710 USA
[2] Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA
[3] Vanderbilt Univ, Med Ctr, Ctr Human Genet Res, Nashville, TN 37232 USA
[4] Vanderbilt Univ, Med Ctr, Vanderbilt Eye Inst, Nashville, TN 37232 USA
[5] Duke Univ, Med Ctr, Duke Univ Eye Ctr, Durham, NC 27710 USA
[6] Duke Univ, Med Ctr, Dept Ophthalmol, Durham, NC 27710 USA
来源：
SCIENCE | 2005年 / 308卷 / 5720期
关键词：
D O I：
10.1126/science.1110359
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 leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucleotide polymorphisms to interrogate this region and identified a strongly associated haplotype in two independent data sets. DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This common variant likely explains similar to 43% of AMD in older adults.
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收藏
页码：419 / 421
页数：3
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