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

Ching-Yu Cheng (), Kenji Yamashiro, Li Jia Chen, Jeeyun Ahn, Lulin Huang, Lvzhen Huang, Chui Ming G. Cheung, Masahiro Miyake, Peter D. Cackett, Ian Y. Yeo, Augustinus Laude, Ranjana Mathur, Junxiong Pang, Kar Seng Sim, Adrian H. Koh, Peng Chen, Shu Yen Lee, Doric Wong, Choi Mun Chan, Boon Kwang Loh, Yaoyao Sun, Sonia Davila, Isao Nakata, Hideo Nakanishi, Yumiko Akagi-Kurashige, Norimoto Gotoh, Akitaka Tsujikawa, Fumihiko Matsuda, Keisuke Mori, Shin Yoneya, Yoichi Sakurada, Hiroyuki Iijima, Tomohiro Iida, Shigeru Honda, Timothy Yuk Yau Lai, Pancy Oi Sin Tam, Haoyu Chen, Shibo Tang, Xiaoyan Ding, Feng Wen, Fang Lu, Xiongze Zhang, Yi Shi, Peiquan Zhao, Bowen Zhao, Jinghong Sang, Bo Gong, Rajkumar Dorajoo, Jian-Min Yuan, Woon-Puay Koh, Rob M. van Dam, Yechiel Friedlander, Ying Lin, Martin L. Hibberd, Jia Nee Foo, Ningli Wang, Chang Hua Wong, Gavin S. Tan, Sang Jun Park, Mayuri Bhargava, Lingam Gopal, Thet Naing, Jiemin Liao, Peng Guan Ong, Paul Mitchell, Peng Zhou, Xuefeng Xie, Jinlong Liang, Junpu Mei, Xin Jin, Seang-Mei Saw, Mineo Ozaki, Takanori Mizoguchi, Yasuo Kurimoto, Se Joon Woo, Hum Chung, Hyeong-Gon Yu, Joo Young Shin, Dong Ho Park, In Taek Kim, Woohyok Chang, Min Sagong, Sang-Joon Lee, Hyun Woong Kim, Ji Eun Lee, Yi Li, Jianjun Liu, Yik Ying Teo, Chew Kiat Heng, Tock Han Lim, Suk-Kyun Yang, Kyuyoung Song, Eranga N. Vithana, Tin Aung, Jin Xin Bei, Yi Xin Zeng, E. Shyong Tai, Xiao Xin Li, Zhenglin Yang, Kyu-Hyung Park, Chi Pui Pang, Nagahisa Yoshimura, Tien Yin Wong () and Chiea Chuen Khor ()
Additional contact information
Ching-Yu Cheng: Singapore Eye Research Institute
Kenji Yamashiro: Kyoto University Graduate School of Medicine
Li Jia Chen: The Chinese University of Hong Kong
Jeeyun Ahn: Seoul Metropolitan Government Seoul National University Boramae Medical Center
Lulin Huang: 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
Lvzhen Huang: Key Laboratory of Vision Loss and Restoration, Ministry of Education of China
Chui Ming G. Cheung: Singapore Eye Research Institute
Masahiro Miyake: Kyoto University Graduate School of Medicine
Peter D. Cackett: Singapore National Eye Center
Ian Y. Yeo: Singapore National Eye Center
Augustinus Laude: Singapore Eye Research Institute
Ranjana Mathur: Singapore National Eye Center
Junxiong Pang: Genome Institute of Singapore
Kar Seng Sim: Genome Institute of Singapore
Adrian H. Koh: Singapore National Eye Center
Peng Chen: Saw Swee Hock School of Public Health, National University of Singapore and National University Health System
Shu Yen Lee: Singapore National Eye Center
Doric Wong: Singapore National Eye Center
Choi Mun Chan: Singapore National Eye Center
Boon Kwang Loh: Singapore National Eye Center
Yaoyao Sun: Key Laboratory of Vision Loss and Restoration, Ministry of Education of China
Sonia Davila: National University of Singapore and National University Health System
Isao Nakata: Kyoto University Graduate School of Medicine
Hideo Nakanishi: Kyoto University Graduate School of Medicine
Yumiko Akagi-Kurashige: Kyoto University Graduate School of Medicine
Norimoto Gotoh: Kyoto University Graduate School of Medicine
Akitaka Tsujikawa: Kyoto University Graduate School of Medicine
Fumihiko Matsuda: Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine
Keisuke Mori: Saitama Medical University
Shin Yoneya: Saitama Medical University
Yoichi Sakurada: Faculty of Medicine, University of Yamanashi
Hiroyuki Iijima: Faculty of Medicine, University of Yamanashi
Tomohiro Iida: Tokyo Women’s Medical University Hospital
Shigeru Honda: Kobe University Graduate School of Medicine
Timothy Yuk Yau Lai: The Chinese University of Hong Kong
Pancy Oi Sin Tam: The Chinese University of Hong Kong
Haoyu Chen: The Chinese University of Hong Kong
Shibo Tang: Zhongshan Ophthalmic Center, Sun Yat-Sen University
Xiaoyan Ding: Zhongshan Ophthalmic Center, Sun Yat-Sen University
Feng Wen: Zhongshan Ophthalmic Center, Sun Yat-Sen University
Fang Lu: 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
Xiongze Zhang: Zhongshan Ophthalmic Center, Sun Yat-Sen University
Yi Shi: 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
Peiquan Zhao: Xin Hua Hospital affiliated to Shanghai Jiao Tong University, School of Medicine
Bowen Zhao: Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Ophthalmology
Jinghong Sang: Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Ophthalmology
Bo Gong: 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
Rajkumar Dorajoo: Genome Institute of Singapore
Jian-Min Yuan: Cancer Control and Population Sciences, University of Pittsburgh Cancer Institute
Woon-Puay Koh: Duke-NUS Graduate Medical School, National University of Singapore
Rob M. van Dam: Saw Swee Hock School of Public Health, National University of Singapore and National University Health System
Yechiel Friedlander: Hebrew University, School of Public Health
Ying Lin: 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
Martin L. Hibberd: Genome Institute of Singapore
Jia Nee Foo: Genome Institute of Singapore
Ningli Wang: Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Ophthalmology
Chang Hua Wong: Genome Institute of Singapore
Gavin S. Tan: Singapore National Eye Center
Sang Jun Park: Seoul National University Bundang Hospital
Mayuri Bhargava: Singapore Eye Research Institute
Lingam Gopal: National University of Singapore and National University Health System
Thet Naing: National University of Singapore and National University Health System
Jiemin Liao: Singapore Eye Research Institute
Peng Guan Ong: Singapore Eye Research Institute
Paul Mitchell: University of Sydney and Westmead Millennium Institute
Peng Zhou: Eye and ENT Hospital of Fudan University
Xuefeng Xie: BGI-Shenzhen
Jinlong Liang: BGI-Shenzhen
Junpu Mei: BGI-Shenzhen
Xin Jin: BGI-Shenzhen
Seang-Mei Saw: Singapore Eye Research Institute
Mineo Ozaki: Ozaki Eye Hospital
Takanori Mizoguchi: Mizoguchi Eye Hospital
Yasuo Kurimoto: Kobe City General Hospital
Se Joon Woo: Seoul National University Bundang Hospital
Hum Chung: Seoul National University Hospital, Seoul National University College of Medicine
Hyeong-Gon Yu: Seoul National University Hospital, Seoul National University College of Medicine
Joo Young Shin: Seoul National University Hospital, Seoul National University College of Medicine
Dong Ho Park: School of Medicine, Kyungpook National University
In Taek Kim: School of Medicine, Kyungpook National University
Woohyok Chang: Yeungnam University College of Medicine
Min Sagong: Yeungnam University College of Medicine
Sang-Joon Lee: College of Medicine, Kosin University
Hyun Woong Kim: Pusan Paik Hospital, Inje University College of Medicine
Ji Eun Lee: Pusan National University Hospital
Yi Li: Genome Institute of Singapore
Jianjun Liu: Genome Institute of Singapore
Yik Ying Teo: Genome Institute of Singapore
Chew Kiat Heng: National University Health System and National University of Singapore
Tock Han Lim: National Healthcare Group Eye Institute, Tan Tock Seng Hospital
Suk-Kyun Yang: Asan Medical Center and University of Ulsan College of Medicine
Kyuyoung Song: University of Ulsan College of Medicine
Eranga N. Vithana: Singapore Eye Research Institute
Tin Aung: Singapore Eye Research Institute
Jin Xin Bei: State Key Laboratory of Oncology in Southern China
Yi Xin Zeng: State Key Laboratory of Oncology in Southern China
E. Shyong Tai: Duke-NUS Graduate Medical School, National University of Singapore
Xiao Xin Li: Key Laboratory of Vision Loss and Restoration, Ministry of Education of China
Zhenglin Yang: 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
Kyu-Hyung Park: Seoul National University Bundang Hospital
Chi Pui Pang: The Chinese University of Hong Kong
Nagahisa Yoshimura: Kyoto University Graduate School of Medicine
Tien Yin Wong: Singapore Eye Research Institute
Chiea Chuen Khor: Singapore Eye Research Institute

Nature Communications, 2015, vol. 6, issue 1, 1-10

Abstract: 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.

Date: 2015
References: Add references at CitEc
Citations: View citations in EconPapers (1)

Downloads: (external link)
https://www.nature.com/articles/ncomms7063 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms7063

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms7063

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().