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学科主题: 临床医学
题名:
New loci and coding variants confer risk for age-related macular degeneration in East Asians
作者: Cheng, Ching-Yu1,2,3,4,5; Yamashiro, Kenji6; Chen, Li Jia7; Ahn, Jeeyun8; Huang, Lulin9,10; Huang, Lvzhen11,12,13; Cheung, Chui Ming G.1,5; Miyake, Masahiro6,14; Cackett, Peter D.5,15; Yeo, Ian Y.5; Laude, Augustinus16; Mathur, Ranjana5; Pang, Junxiong17; Sim, Kar Seng17; Koh, Adrian H.18; Chen, Peng19,20; Lee, Shu Yen5; Wong, Doric5; Chan, Choi Mun5; Loh, Boon Kwang5; Sun, Yaoyao11,12,13; Davila, Sonia3,4,17; Nakata, Isao6,14; Nakanishi, Hideo6; Akagi-Kurashige, Yumiko6,14; Gotoh, Norimoto6; Tsujikawa, Akitaka6; Matsuda, Fumihiko; Mori, Keisuke21; Yoneya, Shin21; Sakurada, Yoichi22; Iijima, Hiroyuki22; Iida, Tomohiro23; Honda, Shigeru24; Lai, Timothy Yuk Yau7; Tam, Pancy Oi Sin7; Chen, Haoyu7,25; Tang, Shibo26,27; Ding, Xiaoyan26; Wen, Feng26; Lu, Fang9,10; Zhang, Xiongze26; Shi, Yi10; Zhao, Peiquan28; Zhao, Bowen29; Sang, Jinghong29; Gong, Bo9,10; Dorajoo, Rajkumar17; Yuan, Jian-Min30,31; Koh, Woon-Puay2,19,20; van Dam, Rob M.19,20; Friedlander, Yechiel32; Lin, Ying; Hibberd, Martin L.17; Foo, Jia Nee17; Wang, Ningli29; Wong, Chang Hua17; Tan, Gavin S.; Park, Sang Jun33; Bhargava, Mayuri3,4; Gopal, Lingam3,4; Naing, Thet3,4; Liao, Jiemin1,3,4; Ong, Peng Guan1; Mitchell, Paul34,35; Zhou, Peng36; Xie, Xuefeng37; Liang, Jinlong37; Mei, Junpu37; Jin, Xin37; Saw, Seang-Mei1,2,3,4,19; Ozaki, Mineo38; Mizoguchi, Takanori39; Kurimoto, Yasuo40; Woo, Se Joon33,41; Chung, Hum41; Yu, Hyeong-Gon41; Shin, Joo Young41; Park, Dong Ho42; Kim, In Taek42; Chang, Woohyok43; Sagong, Min43; Lee, Sang-Joon44; Kim, Hyun Woong45; Lee, Ji Eun46,47; Li, Yi7,17; Liu, Jianjun17,20; Teo, Yik Ying17,20; Heng, Chew Kiat48,49; Lim, Tock Han; Yang, Suk-Kyun50,51; Song, Kyuyoung52; Vithana, Eranga N.1,2,3,4; Aung, Tin1,3,4,5; Bei, Jin Xin53,54; Zeng, Yi Xin53,54,55; Tai, E. Shyong2,19,20,56,57; Li, Xiao Xin11,12,13; Yang, Zhenglin9,10; Park, Kyu-Hyung33; Pang, Chi Pui7; Yoshimura, Nagahisa6; Wong, Tien Yin1,2,3,4,5; Khor, Chiea Chuen1,17,19,20
刊名: NATURE COMMUNICATIONS
发表日期: 2015
DOI: 10.1038/ncomms7063
卷: 6
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: GENOME-WIDE ASSOCIATION ; HIGH-DENSITY-LIPOPROTEIN ; ESTER TRANSFER PROTEIN ; COMMON VARIANTS ; SUSCEPTIBILITY LOCUS ; DISEASE ; IDENTIFICATION ; CHOLESTEROL ; MUTATIONS ; GENE
英文摘要:

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.

语种: 英语
WOS记录号: WOS:000348830300010
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/65488
Appears in Collections:北京大学第二临床医学院_眼科_期刊论文

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作者单位: 1.Singapore Eye Res Inst, Singapore 169856, Singapore
2.Natl Univ Singapore, Duke NUS Grad Med Sch, Singapore 169857, Singapore
3.Natl Univ Singapore, Dept Ophthalmol, Singapore 119228, Singapore
4.Natl Univ Hlth Syst, Singapore 119228, Singapore
5.Singapore Natl Eye Ctr, Singapore 168751, Singapore
6.Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto 6068507, Japan
7.Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Hong Kong, Hong Kong, Peoples R China
8.Seoul Natl Univ, Boramae Med Ctr, Seoul Metropolitan Govt, Dept Ophthalmol, Seoul 156707, South Korea
9.China & Sichuan Prov Peoples Hosp, Hosp Univ Elect Sci & Technol, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu 610072, Peoples R China
10.Univ Elect Sci & Technol China, Sch Med, Chengdu 610072, Peoples R China
11.Minist Educ China, Key Lab Vis Loss & Restorat, Beijing 100044, Peoples R China
12.Beijing Key Lab Diag & Therapy Retinal & Choroid, Beijing 100871, Peoples R China
13.Peking Univ, Dept Ophthalmol, Peoples Hosp, Beijing 100871, Peoples R China
14.Kyoto Univ, Grad Sch Med, Ctr Genom Med, Inserm U852, Kyoto 6068507, Japan
15.Princess Alexandra Eye Pavil, Edinburgh EH3 9HA, Midlothian, Scotland
16.Genome Inst Singapore, Div Human Genet, Singapore 138672, Singapore
17.Camden Med Ctr, Singapore 248649, Singapore
18.Natl Univ Hlth Syst, Singapore 117549, Singapore
19.TokyoWomens Med Univ Hosp, Dept Ophthalmol, Tokyo 1628666, Japan
20.Tan Tock Seng Hosp, Natl Healthcare Grp Eye Inst, Singapore 308433, Singapore
21.Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117549, Singapore
22.Saitama Med Univ, Dept Ophthalmol, Iruma, Saitama 3500495, Japan
23.Univ Yamanashi, Fac Med, Dept Ophthalmol, Yamanashi 4093898, Japan
24.Kobe Univ, Grad Sch Med, Div Ophthalmol, Dept Surg, Kobe, Hyogo 6500017, Japan
25.Shantou Univ, Chinese Univ Hong Kong, Joint Shantou Int Eye Ctr, Shantou 515041, Peoples R China
26.Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, Guangzhou 510060, Guangdong, Peoples R China
27.Cent S Univ, Aier Sch Ophthalmol, Changsha 410000, Peoples R China
28.Shanghai Jiao Tong Univ, Sch Med, Xin Hua Hosp Affiliated, Dept Ophthalmol, Shanghai 200025, Peoples R China
29.Capital Med Univ, Beijing Inst Ophthalmol, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing 100730, Peoples R China
30.Univ Pittsburgh, Inst Canc, Canc Control & Populat Sci, Pittsburgh, PA 15260 USA
31.Univ Pittsburgh, Grad Sch Publ Hlth, Dept Epidemiol, Pittsburgh, PA 15260 USA
32.Hebrew Univ Jerusalem, Sch Publ Hlth, IL-91120 Jerusalem, Israel
33.Seoul Natl Univ, Bundang Hosp, Dept Ophthalmol, Gyeonggi 463707, South Korea
34.Univ Sydney, Dept Ophthalmol, Sydney, NSW 2145, Australia
35.Westmead Millennium Inst, Sydney, NSW 2145, Australia
36.Fudan Univ, Eye & ENT Hosp, Shanghai 200433, Peoples R China
37.BGI Shenzhen, Shenzhen 518083, Peoples R China
38.Ozaki Eye Hosp, Miyazaki 8830066, Japan
39.Mizoguchi Eye Hosp, Nagasaki 8570016, Japan
40.Kobe City Gen Hosp, Dept Ophthalmol, Kobe, Hyogo 6500046, Japan
41.Seoul Natl Univ, Coll Med, Dept Ophthalmol, Seoul Natl Univ Hosp, Seoul 110744, South Korea
42.Kyungpook Natl Univ, Sch Med, Dept Ophthalmol, Daegu 700721, South Korea
43.Yeungnam Univ, Coll Med, Dept Ophthalmol, Daegu 705802, South Korea
44.Kosin Univ, Coll Med, Dept Ophthalmol, Pusan 606701, South Korea
45.Inje Univ, Coll Med, Pusan Paik Hosp, Dept Ophthalmol, Pusan 614735, South Korea
46.Pusan Natl Univ Hosp, Dept Ophthalmol, Pusan 602739, South Korea
47.Pusan Natl Univ, Med Res Inst, Pusan 602739, South Korea
48.Natl Univ Hlth Syst, Dept Pediat, Singapore 119228, Singapore
49.Natl Univ Singapore, Singapore 119228, Singapore
50.Univ Ulsan, Coll Med, Seoul 138736, South Korea
51.Natl Univ Singapore, Singapore 119228, Singapore
52.Asan Med Ctr, Dept Gastroenterol, Seoul 138736, South Korea
53.Univ Ulsan, Coll Med, Dept Biochem & Mol Biol, Seoul 138736, South Korea
54.State Key Lab Oncol Southern China, Guangzhou 510060, Guangdong, Peoples R China
55.Sun Yat Sen Univ, Ctr Canc, Dept Expt Res, Guangzhou 510080, Guangdong, Peoples R China
56.Chinese Acad Med Sci, Peking Union Med Coll, Beijing 100730, Peoples R China
57.Natl Univ Hlth Syst, Dept Med, Singapore 119228, Singapore

Recommended Citation:
Cheng, Ching-Yu,Yamashiro, Kenji,Chen, Li Jia,et al. New loci and coding variants confer risk for age-related macular degeneration in East Asians[J]. NATURE COMMUNICATIONS,2015,6.
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