. 2015 Jan 28:6:6063.

doi: 10.1038/ncomms7063.

New loci and coding variants confer risk for age-related macular degeneration in East Asians

Ching-Yu Cheng¹, Kenji Yamashiro², Li Jia Chen³, Jeeyun Ahn⁴, Lulin Huang⁵, Lvzhen Huang⁶, Chui Ming G Cheung⁷, Masahiro Miyake⁸, Peter D Cackett⁹, Ian Y Yeo¹⁰, Augustinus Laude¹¹, Ranjana Mathur¹⁰, Junxiong Pang¹², Kar Seng Sim¹², Adrian H Koh¹³, Peng Chen¹⁴, Shu Yen Lee¹⁰, Doric Wong¹⁰, Choi Mun Chan¹⁰, Boon Kwang Loh¹⁰, Yaoyao Sun⁶, Sonia Davila¹⁵, Isao Nakata⁸, Hideo Nakanishi², Yumiko Akagi-Kurashige⁸, Norimoto Gotoh², Akitaka Tsujikawa², Fumihiko Matsuda¹⁶, Keisuke Mori¹⁷, Shin Yoneya¹⁷, Yoichi Sakurada¹⁸, Hiroyuki Iijima¹⁸, Tomohiro Iida¹⁹, Shigeru Honda²⁰, Timothy Yuk Yau Lai³, Pancy Oi Sin Tam³, Haoyu Chen²¹, Shibo Tang²², Xiaoyan Ding²³, Feng Wen²³, Fang Lu⁵, Xiongze Zhang²³, Yi Shi⁵, Peiquan Zhao²⁴, Bowen Zhao²⁵, Jinghong Sang²⁵, Bo Gong⁵, Rajkumar Dorajoo¹², Jian-Min Yuan²⁶, Woon-Puay Koh²⁷, Rob M van Dam¹⁴, Yechiel Friedlander²⁸, Ying Lin⁵, Martin L Hibberd¹², Jia Nee Foo¹², Ningli Wang²⁵, Chang Hua Wong¹², Gavin S Tan¹⁰, Sang Jun Park²⁹, Mayuri Bhargava³⁰, Lingam Gopal³¹, Thet Naing³¹, Jiemin Liao³⁰, Peng Guan Ong³², Paul Mitchell³³, Peng Zhou³⁴, Xuefeng Xie³⁵, Jinlong Liang³⁵, Junpu Mei³⁵, Xin Jin³⁵, Seang-Mei Saw³⁶, Mineo Ozaki³⁷, Takanori Mizoguchi³⁸, Yasuo Kurimoto³⁹, Se Joon Woo⁴⁰, Hum Chung⁴¹, Hyeong-Gon Yu⁴¹, Joo Young Shin⁴¹, Dong Ho Park⁴², In Taek Kim⁴², Woohyok Chang⁴³, Min Sagong⁴³, Sang-Joon Lee⁴⁴, Hyun Woong Kim⁴⁵, Ji Eun Lee⁴⁶, Yi Li¹², Jianjun Liu⁴⁷, Yik Ying Teo⁴⁷, Chew Kiat Heng⁴⁸, Tock Han Lim⁴⁹, Suk-Kyun Yang⁵⁰, Kyuyoung Song⁵¹, Eranga N Vithana⁵², Tin Aung⁵³, Jin Xin Bei⁵⁴, Yi Xin Zeng⁵⁵, E Shyong Tai⁵⁶, Xiao Xin Li⁶, Zhenglin Yang⁵, Kyu-Hyung Park²⁹, Chi Pui Pang³, Nagahisa Yoshimura², Tien Yin Wong¹, Chiea Chuen Khor⁵⁷

Affiliations

¹ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore [3] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore [4] Singapore National Eye Center, Singapore 168751, Singapore.
² Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
³ Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
⁴ Department of Ophthalmology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul 156-707, Korea.
⁵ 1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu 610072, China [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China.
⁶ 1] Key Laboratory of Vision Loss and Restoration, Ministry of Education of China, Beijing 100044, China [2] Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, Beijing 100871, China [3] Department of Ophthalmology, People's Hospital, Peking University, Beijing 100871, China.
⁷ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Singapore National Eye Center, Singapore 168751, Singapore.
⁸ 1] Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan [2] Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
⁹ 1] Singapore National Eye Center, Singapore 168751, Singapore [2] Princess Alexandra Eye Pavilion, Edinburgh EH3 9HA, UK.
¹⁰ Singapore National Eye Center, Singapore 168751, Singapore.
¹¹ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore 308433, Singapore.
¹² Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore.
¹³ 1] Singapore National Eye Center, Singapore 168751, Singapore [2] Eye and Retinal Surgeons, Camden Medical Centre, Singapore 248649, Singapore.
¹⁴ Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore.
¹⁵ 1] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore [2] Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore.
¹⁶ Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
¹⁷ Department of Ophthalmology, Saitama Medical University, Iruma 3500495, Japan.
¹⁸ Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Yamanashi 4093898, Japan.
¹⁹ Department of Ophthalmology, Tokyo Women's Medical University Hospital, Tokyo 1628666, Japan.
²⁰ Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe 6500017, Japan.
²¹ 1] Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China [2] Shantou University/Chinese University of Hong Kong Joint Shantou International Eye Center, Shantou 515041, China.
²² 1] Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, China [2] Aier School of Ophthalmology, Central South University, Changsha 410000, China.
²³ Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, China.
²⁴ Department of Ophthalmology, Xin Hua Hospital affiliated to Shanghai Jiao Tong University, School of Medicine, Shanghai 200025, China.
²⁵ Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Ophthalmology, Beijing 100730, China.
²⁶ 1] Cancer Control and Population Sciences, University of Pittsburgh Cancer Institute, Pittsburgh, Pennsylvania 15260, USA [2] Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA.
²⁷ 1] Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore [2] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore.
²⁸ Hebrew University, School of Public Health, Jerusalem 91120, Israel.
²⁹ Department of Ophthalmology, Seoul National University Bundang Hospital, Gyeonggi 463-707, Korea.
³⁰ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore.
³¹ Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore.
³² Singapore Eye Research Institute, Singapore 169856, Singapore.
³³ Department of Ophthalmology, University of Sydney and Westmead Millennium Institute, Sydney 2145, Australia.
³⁴ Eye and ENT Hospital of Fudan University, Shanghai 200433, China.
³⁵ BGI-Shenzhen, Shenzhen 518083, China.
³⁶ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore [3] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore [4] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore.
³⁷ Ozaki Eye Hospital, Miyazaki 8830066, Japan.
³⁸ Mizoguchi Eye Hospital, Nagasaki 8570016, Japan.
³⁹ Department of Ophthalmology, Kobe City General Hospital, Kobe 6500046, Japan.
⁴⁰ 1] Department of Ophthalmology, Seoul National University Bundang Hospital, Gyeonggi 463-707, Korea [2] Department of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 110-744, Korea.
⁴¹ Department of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 110-744, Korea.
⁴² Department of Ophthalmology, School of Medicine, Kyungpook National University, Daegu 700-721, Korea.
⁴³ Department of Ophthalmology, Yeungnam University College of Medicine, Daegu 705-802, Korea.
⁴⁴ Department of Ophthalmology, College of Medicine, Kosin University, Pusan 606-701, Korea.
⁴⁵ Department of Ophthalmology, Pusan Paik Hospital, Inje University College of Medicine, Pusan 614-735, Korea.
⁴⁶ 1] Department of Ophthalmology, Pusan National University Hospital, Pusan 602-739, Korea [2] Medical Research Institute, Pusan National University, Pusan 602-739, Korea.
⁴⁷ 1] Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore [2] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore.
⁴⁸ Department of Pediatrics, National University Health System and National University of Singapore, Singapore 119228, Singapore.
⁴⁹ National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore 308433, Singapore.
⁵⁰ Department of Gastroenterology, Asan Medical Center and University of Ulsan College of Medicine, Seoul 138-736, Korea.
⁵¹ Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul 138-736, Korea.
⁵² 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore [3] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore.
⁵³ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore [3] Singapore National Eye Center, Singapore 168751, Singapore.
⁵⁴ 1] State Key Laboratory of Oncology in Southern China, Guangzhou 510060, China [2] Department of Experimental Research, Sun Yat-Sen University Cancer Center, Guangzhou 510080, China.
⁵⁵ 1] State Key Laboratory of Oncology in Southern China, Guangzhou 510060, China [2] Department of Experimental Research, Sun Yat-Sen University Cancer Center, Guangzhou 510080, China [3] Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.
⁵⁶ 1] Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore [2] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore [3] Department of Medicine, National University Health System and National University of Singapore, Singapore 119228, Singapore.
⁵⁷ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore [3] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore.

PMID: 25629512
PMCID: PMC4317498
DOI: 10.1038/ncomms7063

New loci and coding variants confer risk for age-related macular degeneration in East Asians

Ching-Yu Cheng et al. Nat Commun. 2015.

. 2015 Jan 28:6:6063.

doi: 10.1038/ncomms7063.

Authors

Affiliations

¹ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore [3] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore [4] Singapore National Eye Center, Singapore 168751, Singapore.
² Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
³ Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
⁴ Department of Ophthalmology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul 156-707, Korea.
⁵ 1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu 610072, China [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China.
⁶ 1] Key Laboratory of Vision Loss and Restoration, Ministry of Education of China, Beijing 100044, China [2] Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, Beijing 100871, China [3] Department of Ophthalmology, People's Hospital, Peking University, Beijing 100871, China.
⁷ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Singapore National Eye Center, Singapore 168751, Singapore.
⁸ 1] Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan [2] Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
⁹ 1] Singapore National Eye Center, Singapore 168751, Singapore [2] Princess Alexandra Eye Pavilion, Edinburgh EH3 9HA, UK.
¹⁰ Singapore National Eye Center, Singapore 168751, Singapore.
¹¹ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore 308433, Singapore.
¹² Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore.
¹³ 1] Singapore National Eye Center, Singapore 168751, Singapore [2] Eye and Retinal Surgeons, Camden Medical Centre, Singapore 248649, Singapore.
¹⁴ Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore.
¹⁵ 1] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore [2] Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore.
¹⁶ Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.
¹⁷ Department of Ophthalmology, Saitama Medical University, Iruma 3500495, Japan.
¹⁸ Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Yamanashi 4093898, Japan.
¹⁹ Department of Ophthalmology, Tokyo Women's Medical University Hospital, Tokyo 1628666, Japan.
²⁰ Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe 6500017, Japan.
²¹ 1] Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China [2] Shantou University/Chinese University of Hong Kong Joint Shantou International Eye Center, Shantou 515041, China.
²² 1] Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, China [2] Aier School of Ophthalmology, Central South University, Changsha 410000, China.
²³ Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, China.
²⁴ Department of Ophthalmology, Xin Hua Hospital affiliated to Shanghai Jiao Tong University, School of Medicine, Shanghai 200025, China.
²⁵ Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Ophthalmology, Beijing 100730, China.
²⁶ 1] Cancer Control and Population Sciences, University of Pittsburgh Cancer Institute, Pittsburgh, Pennsylvania 15260, USA [2] Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA.
²⁷ 1] Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore [2] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore.
²⁸ Hebrew University, School of Public Health, Jerusalem 91120, Israel.
²⁹ Department of Ophthalmology, Seoul National University Bundang Hospital, Gyeonggi 463-707, Korea.
³⁰ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore.
³¹ Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore.
³² Singapore Eye Research Institute, Singapore 169856, Singapore.
³³ Department of Ophthalmology, University of Sydney and Westmead Millennium Institute, Sydney 2145, Australia.
³⁴ Eye and ENT Hospital of Fudan University, Shanghai 200433, China.
³⁵ BGI-Shenzhen, Shenzhen 518083, China.
³⁶ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore [3] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore [4] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore.
³⁷ Ozaki Eye Hospital, Miyazaki 8830066, Japan.
³⁸ Mizoguchi Eye Hospital, Nagasaki 8570016, Japan.
³⁹ Department of Ophthalmology, Kobe City General Hospital, Kobe 6500046, Japan.
⁴⁰ 1] Department of Ophthalmology, Seoul National University Bundang Hospital, Gyeonggi 463-707, Korea [2] Department of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 110-744, Korea.
⁴¹ Department of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 110-744, Korea.
⁴² Department of Ophthalmology, School of Medicine, Kyungpook National University, Daegu 700-721, Korea.
⁴³ Department of Ophthalmology, Yeungnam University College of Medicine, Daegu 705-802, Korea.
⁴⁴ Department of Ophthalmology, College of Medicine, Kosin University, Pusan 606-701, Korea.
⁴⁵ Department of Ophthalmology, Pusan Paik Hospital, Inje University College of Medicine, Pusan 614-735, Korea.
⁴⁶ 1] Department of Ophthalmology, Pusan National University Hospital, Pusan 602-739, Korea [2] Medical Research Institute, Pusan National University, Pusan 602-739, Korea.
⁴⁷ 1] Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore [2] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore.
⁴⁸ Department of Pediatrics, National University Health System and National University of Singapore, Singapore 119228, Singapore.
⁴⁹ National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore 308433, Singapore.
⁵⁰ Department of Gastroenterology, Asan Medical Center and University of Ulsan College of Medicine, Seoul 138-736, Korea.
⁵¹ Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul 138-736, Korea.
⁵² 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore [3] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore.
⁵³ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore [3] Singapore National Eye Center, Singapore 168751, Singapore.
⁵⁴ 1] State Key Laboratory of Oncology in Southern China, Guangzhou 510060, China [2] Department of Experimental Research, Sun Yat-Sen University Cancer Center, Guangzhou 510080, China.
⁵⁵ 1] State Key Laboratory of Oncology in Southern China, Guangzhou 510060, China [2] Department of Experimental Research, Sun Yat-Sen University Cancer Center, Guangzhou 510080, China [3] Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.
⁵⁶ 1] Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore [2] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore [3] Department of Medicine, National University Health System and National University of Singapore, Singapore 119228, Singapore.
⁵⁷ 1] Singapore Eye Research Institute, Singapore 169856, Singapore [2] Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore [3] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117549, Singapore.

PMID: 25629512
PMCID: PMC4317498
DOI: 10.1038/ncomms7063

Erratum in

Corrigendum: New loci and coding variants confer risk for age-related macular degeneration in East Asians.
Cheng CY, Yamashiro K, Jia Chen L, Ahn J, Huang L, Huang L, Cheung CMG, Miyake M, Cackett PD, Yeo IY, Laude A, Mathur R, Pang J, Sim KS, Koh AH, Chen P, Lee SY, Wong D, Chan CM, Loh BK, Sun Y, Davila S, Nakata I, Nakanishi H, Akagi-Kurashige Y, Gotoh N, Tsujikawa A, Matsuda F, Mori K, Yoneya S, Sakurada Y, Iijima H, Iida T, Honda S, Lai TYY, Tam POS, Chen H, Tang S, Ding X, Wen F, Lu F, Zhang X, Shi Y, Zhao P, Zhao B, Sang J, Gong B, Dorajoo R, Yuan JM, Koh WP, van Dam RM, Friedlander Y, Lin Y, Hibberd ML, Foo JN, Wang N, Wong CH, Tan GS, Park SJ, Bhargava M, Gopal L, Naing T, Liao J, Ong PG, Mitchell P, Zhou P, Xie X, Liang J, Mei J, Jin X, Saw SM, Ozaki M, Mizoguchi T, Kurimoto Y, Woo SJ, Chung H, Yu HG, Shin JY, Park DH, Kim IT, Chang W, Sagong M, Lee SJ, Kim HW, Lee JE, Li Y, Liu J, Teo YY, Heng CK, Lim TH, Yang SK, Song K, Vithana EN, Aung T, Bei JX, Zeng YX, Tai ES, Li XX, Yang Z, Park KH, Pang CP, Yoshimura N, Wong TY, Khor CC. Cheng CY, et al. Nat Commun. 2015 Mar 30;6:6817. doi: 10.1038/ncomms7817. Nat Commun. 2015. PMID: 25817435 Free PMC article. No abstract available.

Abstract

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.

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Figures

**Figure 1. Genomic organization of the *CETP* gene.**
The position of five rare (minor allele frequency <0.05) amino-acid changes observed in the discovery samples are shown as indicated by the arrows. Horizontal bars represent the position of exons in the *CETP* gene.

**Figure 2. Regional association plots at the three risk loci for exudative age-related macular degeneration.**
(a) The *C6orf223* locus (rs2295334): *VEGFA* rs943080, which is located in the intergenic, non-coding region, was very strongly associated with AMD in Europeans, but this study of exudative AMD in East Asians could not reveal significant association with it (P=0.041 by score-based tests using logistic regression in 2,119 cases and 5,691 controls). The two markers are independent from each other (r²=0.0), as well as separated by strong recombination events in Asians. (b) The *SLC44A4* locus (rs12661281): *C2-CFB* rs429608 was very strongly associated with AMD in Europeans, but revealed modest evidence of association in our discovery stage (P=1.06 × 10⁻⁴). The two markers are independent from one another (r²=0.01). (c) The *FGD6* locus (rs10507047).

See this image and copyright information in PMC

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New loci and coding variants confer risk for age-related macular degeneration in East Asians

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New loci and coding variants confer risk for age-related macular degeneration in East Asians

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