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

Author

Listed:
  • Ching-Yu Cheng

    (Singapore Eye Research Institute
    Duke-NUS Graduate Medical School, National University of Singapore
    National University of Singapore and National University Health System
    Singapore National Eye Center)

  • 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
    School of Medicine, University of Electronic Science and Technology of China)

  • Lvzhen Huang

    (Key Laboratory of Vision Loss and Restoration, Ministry of Education of China
    Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases
    People’s Hospital, Peking University)

  • Chui Ming G. Cheung

    (Singapore Eye Research Institute
    Singapore National Eye Center)

  • Masahiro Miyake

    (Kyoto University Graduate School of Medicine
    Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine)

  • Peter D. Cackett

    (Singapore National Eye Center
    Princess Alexandra Eye Pavilion)

  • Ian Y. Yeo

    (Singapore National Eye Center)

  • Augustinus Laude

    (Singapore Eye Research Institute
    National Healthcare Group Eye Institute, Tan Tock Seng Hospital)

  • 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
    Eye and Retinal Surgeons, Camden Medical Centre)

  • 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
    Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases
    People’s Hospital, Peking University)

  • Sonia Davila

    (National University of Singapore and National University Health System
    Genome Institute of Singapore)

  • Isao Nakata

    (Kyoto University Graduate School of Medicine
    Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine)

  • Hideo Nakanishi

    (Kyoto University Graduate School of Medicine)

  • Yumiko Akagi-Kurashige

    (Kyoto University Graduate School of Medicine
    Center for Genomic Medicine/Inserm U.852, 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
    Shantou University/Chinese University of Hong Kong Joint Shantou International Eye Center)

  • Shibo Tang

    (Zhongshan Ophthalmic Center, Sun Yat-Sen University
    Aier School of Ophthalmology, Central South 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
    School of Medicine, University of Electronic Science and Technology of China)

  • 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
    School of Medicine, University of Electronic Science and Technology of China)

  • 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
    School of Medicine, University of Electronic Science and Technology of China)

  • Rajkumar Dorajoo

    (Genome Institute of Singapore)

  • Jian-Min Yuan

    (Cancer Control and Population Sciences, University of Pittsburgh Cancer Institute
    Graduate School of Public Health, University of Pittsburgh)

  • Woon-Puay Koh

    (Duke-NUS Graduate Medical School, National University of Singapore
    Saw Swee Hock School of Public Health, National University of Singapore and National University Health System)

  • 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
    School of Medicine, University of Electronic Science and Technology of China)

  • 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
    National University of Singapore and National University Health System)

  • 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
    National University of Singapore and National University Health System)

  • 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
    Duke-NUS Graduate Medical School, National University of Singapore
    National University of Singapore and National University Health System
    Saw Swee Hock School of Public Health, National University of Singapore and National University Health System)

  • Mineo Ozaki

    (Ozaki Eye Hospital)

  • Takanori Mizoguchi

    (Mizoguchi Eye Hospital)

  • Yasuo Kurimoto

    (Kobe City General Hospital)

  • Se Joon Woo

    (Seoul National University Bundang Hospital
    Seoul National University Hospital, Seoul National University College of Medicine)

  • 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
    Medical Research Institute, Pusan National University)

  • Yi Li

    (Genome Institute of Singapore)

  • Jianjun Liu

    (Genome Institute of Singapore
    Saw Swee Hock School of Public Health, National University of Singapore and National University Health System)

  • Yik Ying Teo

    (Genome Institute of Singapore
    Saw Swee Hock School of Public Health, National University of Singapore and National University Health System)

  • 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
    Duke-NUS Graduate Medical School, National University of Singapore
    National University of Singapore and National University Health System)

  • Tin Aung

    (Singapore Eye Research Institute
    National University of Singapore and National University Health System
    Singapore National Eye Center)

  • Jin Xin Bei

    (State Key Laboratory of Oncology in Southern China
    Sun Yat-Sen University Cancer Center)

  • Yi Xin Zeng

    (State Key Laboratory of Oncology in Southern China
    Sun Yat-Sen University Cancer Center
    Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China)

  • E. Shyong Tai

    (Duke-NUS Graduate Medical School, National University of Singapore
    Saw Swee Hock School of Public Health, National University of Singapore and National University Health System
    National University Health System and National University of Singapore)

  • Xiao Xin Li

    (Key Laboratory of Vision Loss and Restoration, Ministry of Education of China
    Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases
    People’s Hospital, Peking University)

  • 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
    School of Medicine, University of Electronic Science and Technology of China)

  • 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
    Duke-NUS Graduate Medical School, National University of Singapore
    National University of Singapore and National University Health System
    Singapore National Eye Center)

  • Chiea Chuen Khor

    (Singapore Eye Research Institute
    Genome Institute of Singapore
    Saw Swee Hock School of Public Health, National University of Singapore and National University Health System)

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.

Suggested Citation

  • 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 & J, 2015. "New loci and coding variants confer risk for age-related macular degeneration in East Asians," Nature Communications, Nature, vol. 6(1), pages 1-10, May.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms7063
    DOI: 10.1038/ncomms7063
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    Cited by:

    1. Qiao Fan & Hengtong Li & Xiaomeng Wang & Yih-Chung Tham & Kelvin Yi Chong Teo & Masayuki Yasuda & Weng Khong Lim & Yuet Ping Kwan & Jing Xian Teo & Ching-Jou Chen & Li Jia Chen & Jeeyun Ahn & Sonia Da, 2023. "Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes," Nature Communications, Nature, vol. 14(1), pages 1-14, December.

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