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| ncomms7817.pdf | Corrigendum | 87.48 kB | Adobe PDF | 見る/開く |
| タイトル: | New loci and coding variants confer risk for age-related macular degeneration in East Asians |
| 著者: | Cheng, Ching Yu Yamashiro, Kenji Jia Chen, Li Ahn, Jeeyun Huang, Lulin Huang, Lvzhen Cheung, Chui Ming G Miyake, Masahiro   Cackett, Peter D. Yeo, Ian Y. Laude, Augustinus Gopal, Lingam Naing, Thet Liao, Jiemin Guan Ong, Peng Mitchell, Paul Zhou, Peng Xie, Xuefeng Liang, Jinlong Mei, Junpu Jin, Xin Saw, Seang Mei Ozaki, Mineo Mizoguchi, Takanori Kurimoto, Yasuo Woo, Se Joon Chung, Hum Yu, Hyeong Gon Shin, Joo Young Park, Dong Ho Kim, In Taek Chang, Woohyok Sagong, Min Lee, Sang Joon Kim, Hyun Woong Lee, Ji Eun Li, Yi Liu, Jianjun Teo, Yik Ying Heng, Chew Kiat Lim, Tock Han Yang, Suk Kyun Song, Kyuyoung Vithana, Eranga N. Aung, Tin Bei, Jin Xin Zeng, Yi Xin Tai, E. Shyong Li, Xiao Xin Yang, Zhenglin Park, Kyu Hyung Pang, Chi Pui Yoshimura, Nagahisa Yin Wong, Tien Khor, Chiea Chuen Mathur, Ranjana Pang, Junxiong Sim, Kar Seng Koh, Adrian H. Chen, Peng Lee, Shu Yen Wong, Doric Chan, Choi Mun Loh, Boon Kwang Sun, Yaoyao Davila, Sonia 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 |
| 著者名の別形: | 中西, 秀雄 後藤, 謙元 松田, 文彦 吉村, 長久 |
| キーワード: | Biological sciences Genetics |
| 発行日: | 28-Jan-2015 |
| 出版者: | Nature Publishing Group |
| 誌名: | Nature Communications |
| 巻: | 6 |
| 論文番号: | 6063 |
| 抄録: | 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 0.17mmoll-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. |
| 記述: | 加齢黄斑変性の発症に関わるアジア人特有の遺伝子変異を発見. 京都大学プレスリリース. 2015-02-05. Updated 30 March 2015. [Corrigendum] doi:10.1038/ncomms7817 |
| 著作権等: | This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| URI: | http://hdl.handle.net/2433/210236 |
| DOI(出版社版): | 10.1038/ncomms7063 |
| PubMed ID: | 25629512 |
| 関連リンク: | https://www.kyoto-u.ac.jp/ja/research-news/2015-02-05 |
| 出現コレクション: | 学術雑誌掲載論文等 |
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