| Title: |
New loci and coding variants confer risk for age-related macular degeneration in East Asians |
| Authors: |
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 |
| Contributors: |
中西, 秀雄; 後藤, 謙元; 松田, 文彦; 吉村, 長久; 90812793; 80724278; 40402846; 50212220 |
| Publisher Information: |
Nature Publishing Group |
| Publication Year: |
2015 |
| Collection: |
Kyoto University Research Information Repository (KURENAI) / 京都大学学術情報リポジトリ |
| Subject Terms: |
Biological sciences; Genetics |
| Description: |
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 ; 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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| Relation: |
https://www.kyoto-u.ac.jp/ja/research-news/2015-02-05; https://hdl.handle.net/2433/210236; Nature Communications; 6063 |
| Availability: |
https://hdl.handle.net/2433/210236 |
| Rights: |
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/ |
| Accession Number: |
edsbas.7AA2249D |
| Database: |
BASE |