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イイダ トモヒロ
Iida Tomohiro
飯田 知弘 所属 医学部 医学科（東京女子医科大学病院） 職種 教授・基幹分野長 |
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| 論文種別 | 原著 |
| 言語種別 | 英語 |
| 査読の有無 | 査読あり |
| 表題 | New loci and coding variants confer risk for age-related macular degeneration in East Asians. |
| 掲載誌名 | 正式名：Nature communications 略 称：Nat Commun ISSNコード：20411723/20411723 |
| 掲載区分 | 国外 |
| 巻・号・頁 | 6,pp.6063 |
| 著者・共著者 | 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, |
| 発行年月 | 2015/01 |
| 概要 | 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 |