Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Invest Ophthalmol Vis Sci. 2012 May 31;53(6):3175-82. doi: 10.1167/iovs.11-8135.
differentiate the associations of exudative age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) with the ARMS2/HTRA1 locus.
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.
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.
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.
区分渗出型年龄相关性黄斑变性（AMD）和息肉状脉络膜血管病变（PCV）与 ARMS2/HTRA1 基因座的关联。
对 568 名无血缘关系的中国人进行了 ARMS2 全序列测序和 HTRA1 rs11200638 基因分型：156 例渗出性 AMD 患者、164 例 PCV 患者和 248 例对照。进行了一项荟萃分析，以检查 ARMS2/HTRA1 基因座中 rs10490924 和 rs11200638 对 PCV 的影响。
总共在 ARMS2 中发现了 31 种多态性。其中 11 种与渗出性 AMD 和 PCV 均有显著相关性，并且与 ARMS2 和 HTRA1 rs11200638 的基因型分布不同（P<0.001）。在调整 rs11200638 后，ARMS2 rs10490924 与渗出性 AMD 仍显著相关（P=0.011），但与 PCV 无关（P=0.077）。荟萃分析显示，rs10490924 和 rs11200638 在不同研究人群中与 PCV 的等位基因关联一致。
ARMS2/HTRA1 基因座与渗出性 AMD 和 PCV 均有强烈而一致的关联，表明这两种疾病至少部分具有相似的分子机制。不同的效应大小表明，存在额外的遗传和环境因素，它们对它们的影响程度不同。
