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New loci and coding variants confer risk for age-related macular degeneration in East Asians

Ching-Yu Cheng,K. Yamashiro,Li Jia Chen,Jeeyun Ahn,Lulin Huang,Lvzhen Huang,C. Cheung,M. Miyake,P. Cackett,I. Yeo,A. Laude,R. Mathur,J. Pang,K. Sim,A. Koh,Peng Chen,S. Lee,Doric Wong,C. M. Chan,B. Loh,Yaoyao Sun,S. Davila,Isao Nakata,Hideo Nakanishi,Yumiko Akagi-Kurashige,N. Gotoh,A. Tsujikawa,F. Matsuda,K. Mori,S. Yoneya,Yoichi Sakurada,H. Iijima,T. Iida,S. Honda,T. Lai,P. Tam,H. Chen,Shibo Tang,Xiaoyan Ding,F. Wen,Fang Lu,Xiongze Zhang,Yi Shi,Peiquan Zhao,Bowen Zhao,Jinghong Sang,B. Gong,R. Dorajoo,Jian-Min Yuan,W. Koh,R. V. van Dam,Y. Friedlander,Ying Lin,M. Hibberd,J. Foo,Ningli Wang,Chang Hua Wong,G. Tan,S. Park,M. Bhargava,L. Gopal,T. Naing,Jiemin Liao,Peng Guan Ong,P. Mitchell,P. Zhou,Xuefeng Xie,Jinlong Liang,J. Mei,Xin Jin,S. Saw,M. Ozaki,T. Mizoguchi,Y. Kurimoto,S. Woo,Hum Chung,H. Yu,J. Shin,D. Park,I. Kim,Woohyok Chang,M. Sagong,Sang-joon Lee,H. Kim,J. E. Lee,Yi Li,Jianjun Liu,Y. Teo,C. Heng,T. Lim,Suk-Kyun Yang,K. Song,E. Vithana,T. Aung,J. Bei,Y. Zeng,E. Tai,Xiao Xin Li,Zhenglin Yang,K. Park,C. Pang,N. Yoshimura,Tien Yin Wong,C. Khor

Published 2015 in Nature Communications

ABSTRACT

Age-related macular degeneration (AMD) is a major cause of blindness, but presents differently in Europeans and Asians. Here, we perform a genome-wide and exome-wide association study on 2,119 patients with exudative AMD and 5,691 controls, with independent replication in 4,226 patients and 10,289 controls, all of East Asian descent, as part of The Genetics of AMD in Asians (GAMA) Consortium. We find a strong association between CETP Asp442Gly (rs2303790), an East Asian-specific mutation, and increased risk of AMD (odds ratio (OR)=1.70, P=5.60 × 10−22). The AMD risk allele (442Gly), known to protect from coronary heart disease, increases HDL cholesterol levels by 0.17 mmol l−1 (P=5.82 × 10−21) in East Asians (n=7,102). We also identify three novel AMD loci: C6orf223 Ala231Ala (OR=0.78, P=6.19 × 10−18), SLC44A4 Asp47Val (OR=1.27, P=1.08 × 10−11) and FGD6 Gln257Arg (OR=0.87, P=2.85 × 10−8). Our findings suggest that some of the genetic loci conferring AMD susceptibility in East Asians are shared with Europeans, yet AMD in East Asians may also have a distinct genetic signature. Age-related macular degeneration (AMD) is a major cause of blindness worldwide. Here, the authors carry out a two-stage genome-wide association study for AMD and identify three new AMD risk loci, highlighting the shared and distinct genetic basis of the disease in East Asians and Europeans.

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