Differentiation of Exudative Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in the ARMS2/HTRA1 Locus

被引：36
作者：
Liang, Xiao Ying [1 ]
Lai, Timothy Y. Y. [1 ]
Liu, David T. L. [1 ]
Fan, Alex H. [1 ]
Chen, Li Jia [1 ]
Tam, Pancy O. S. [1 ]
Chiang, Sylvia W. Y. [1 ]
Ng, Tsz Kin [1 ]
Lam, Dennis S. C. [1 ]
Pang, Chi Pui [1 ]
机构：
[1] Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Hong Kong, Hong Kong, Peoples R China
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2012年 / 53卷 / 06期
关键词：
COMPLEMENT-FACTOR-H; GENE POLYMORPHISMS; LOC387715; A69S; CFH; MACULOPATHY; POPULATION; VARIANTS; RISK; SUSCEPTIBILITY; CLASSIFICATION;
D O I：
10.1167/iovs.11-8135
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
PURPOSE. To differentiate the associations of exudative age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) with the ARMS2/HTRA1 locus. METHODS. The entire ARMS2 sequence was sequenced and HTRA1 rs11200638 genotyped in 568 unrelated Chinese individuals: 156 exudative AMD patients, 164 PCV patients, and 248 controls. A meta-analysis was performed to examine the effects of rs10490924 and rs11200638 at the ARMS2/HTRA1 locus in PCV. RESULTS. In total, 31 polymorphisms in ARMS2 were identified. Significant associations with both exudative AMD and PCV were observed in 11 of them and HTRA1 rs11200638, with different genotypic distributions between exudative AMD and PCV (P < 0.001). After adjusting for rs11200638, ARMS2 rs10490924 remained significantly associated with exudative AMD (P = 0.011), but not with PCV (P = 0.077). Meta-analysis showed consistent allelic associations of rs10490924 and rs11200638 with PCV in different study populations. CONCLUSIONS. There is a strong and consistent association of the ARMS2/HTRA1 locus with both exudative AMD and PCV, suggesting the two disorders share, at least partially, similar molecular mechanisms. Different effect sizes indicate the existence of additional genetic and environmental factors affecting them to different extents. (Invest Ophthalmol Vis Sci. 2012;53:3175-3182) DOI:10.1167/iovs.11-8135
引用
收藏
页码：3175 / 3182
页数：8
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