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Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes

Author

Listed:
  • Qiao Fan

    (National University of Singapore
    Duke-NUS Medical School)

  • Hengtong Li

    (Singapore National Eye Centre
    National University of Singapore
    National University of Singapore)

  • Xiaomeng Wang

    (Duke-NUS Medical School
    National University of Singapore)

  • Yih-Chung Tham

    (Duke-NUS Medical School
    Singapore National Eye Centre
    National University of Singapore
    National University of Singapore)

  • Kelvin Yi Chong Teo

    (Duke-NUS Medical School
    Singapore National Eye Centre)

  • Masayuki Yasuda

    (Tohoku University Graduate School of Medicine)

  • Weng Khong Lim

    (SingHealth Duke-NUS Institute of Precision Medicine
    SingHealth Duke-NUS Genomic Medicine Centre
    Duke-NUS Medical School
    Genome Institute of Singapore, Agency for Science, Technology and Research)

  • Yuet Ping Kwan

    (Duke-NUS Medical School)

  • Jing Xian Teo

    (SingHealth Duke-NUS Institute of Precision Medicine)

  • Ching-Jou Chen

    (National University of Singapore)

  • Li Jia Chen

    (The Chinese University of Hong Kong)

  • Jeeyun Ahn

    (Seoul National University College of Medicine, Seoul Metropolitan Government Seoul National University Boramae Medical Center)

  • Sonia Davila

    (SingHealth Duke-NUS Institute of Precision Medicine)

  • Masahiro Miyake

    (Kyoto University Graduate School of Medicine)

  • Patrick Tan

    (SingHealth Duke-NUS Institute of Precision Medicine
    Duke-NUS Medical School
    Genome Institute of Singapore)

  • Kyu Hyung Park

    (Seoul National University Hospital)

  • Chi Pui Pang

    (The Chinese University of Hong Kong)

  • Chiea Chuan Khor

    (Genome Institute of Singapore)

  • Tien Yin Wong

    (Tsinghua University)

  • Yasuo Yanagi

    (Yokohama City University)

  • Chui Ming Gemmy Cheung

    (Duke-NUS Medical School
    Singapore National Eye Centre)

  • Ching-Yu Cheng

    (Duke-NUS Medical School
    Singapore National Eye Centre
    National University of Singapore
    National University of Singapore)

Abstract

Neovascular age-related macular degeneration (nAMD), along with its clinical subtype known as polypoidal choroidal vasculopathy (PCV), are among the leading causes of vision loss in elderly Asians. In a genome-wide association study (GWAS) comprising 3,128 nAMD (1,555 PCV and 1,573 typical nAMD), and 5,493 controls of East Asian ancestry, we identify twelve loci, of which four are novel ( $$P \,

Suggested Citation

  • 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.
    • Handle: RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-023-41256-z
    DOI: 10.1038/s41467-023-41256-z
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    References listed on IDEAS

    as
    1. 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.
    2. Anshul Kundaje & Wouter Meuleman & Jason Ernst & Misha Bilenky & Angela Yen & Alireza Heravi-Moussavi & Pouya Kheradpour & Zhizhuo Zhang & Jianrong Wang & Michael J. Ziller & Viren Amin & John W. Whit, 2015. "Integrative analysis of 111 reference human epigenomes," Nature, Nature, vol. 518(7539), pages 317-330, February.
    3. Christiaan A de Leeuw & Joris M Mooij & Tom Heskes & Danielle Posthuma, 2015. "MAGMA: Generalized Gene-Set Analysis of GWAS Data," PLOS Computational Biology, Public Library of Science, vol. 11(4), pages 1-19, April.
    4. Kyoko Watanabe & Erdogan Taskesen & Arjen Bochoven & Danielle Posthuma, 2017. "Functional mapping and annotation of genetic associations with FUMA," Nature Communications, Nature, vol. 8(1), pages 1-11, December.
    5. Lv-Zhen Huang & Ying-Jie Li & Xue-Feng Xie & Jing-Jing Zhang & Ching-Yu Cheng & Kenji Yamashiro & Li-Jia Chen & Xiao-Yun Ma & Chui Ming G. Cheung & Yu-Sheng Wang & Chun-Fang Zhang & Yu-Jing Bai & Jing, 2015. "Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations," Nature Communications, Nature, vol. 6(1), pages 1-6, May.
    6. 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. "Correction: Corrigendum: New loci and coding variants confer risk for age-related macular degeneration in East Asians," Nature Communications, Nature, vol. 6(1), pages 1-1, November.
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