IIDA Tomohiro    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Professor and Division head
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	New loci and coding variants confer risk for age-related macular degeneration in East Asians.
Journal	Formal name：Nature communications Abbreviation：Nat Commun ISSN code：20411723/20411723
Domestic / Foregin	Foregin
Volume, Issue, Page	6,pp.6063
Author and coauthor	Yamashiro Kenji, Miyake Masahiro,Nonia, Nakata Isao, Nakanishi Hideo, Akagi-Kurashige Yumiko, Gotoh Norimoto, Tsujikawa Akitaka, Matsuda Fumihiko, Mori Keisuke, Yoneya Shin, Sakurada Yoichi, Iijima Hiroyuki, Iida Tomohiro, Honda Shigeru, Lai Timothy Yuk Yau, Tam Pancy Oi Sin, Chen Haoyu, Tang Shibo, Ding Xiaoyan, Wen Feng, Lu Fang, Zhang Xiongze, Shi Yi, Zhao Peiquan, Zhao Bowen, Sang Jinghong, Gong Bo, Dorajoo Rajkumar, Yuan Jian-Min, Koh Woon-Puay, van Dam Rob M, Friedlander Yechiel, Lin Ying, Hibberd Martin L, Foo Jia Nee, Wang Ningli, Wong Chang Hua, Tan Gavin S, Park Sang Jun, Bhargava Mayuri, Gopal Lingam, Naing Thet, Liao Jiemin, Ong Peng Guan, Mitchell Paul, Zhou Peng, Xie Xuefeng, Liang Jinlong, Mei Junpu, Jin Xin, Saw Seang-Mei, Ozaki Mineo, Mizoguchi Takanori, Kurimoto Yasuo,
Publication date	2015/01
Summary	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.
DOI	10.1038/ncomms7063
PMID	25629512