IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v12y2021i1d10.1038_s41467-021-23873-8.html
   My bibliography  Save this article

A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

Author

Listed:
  • Hélène Choquet

    (Division of Research)

  • Ronald B. Melles

    (KPNC, Department of Ophthalmology)

  • Deepti Anand

    (University of Delaware)

  • Jie Yin

    (Division of Research)

  • Gabriel Cuellar-Partida

    (23andMe Inc)

  • Wei Wang

    (23andMe Inc)

  • Thomas J. Hoffmann

    (UCSF
    UCSF)

  • K. Saidas Nair

    (UCSF)

  • Pirro G. Hysi

    (School of Life Course Sciences
    Department of Twin Research and Genetic Epidemiology
    University College London, Great Ormond Street Hospital Institute of Child Health)

  • Salil A. Lachke

    (University of Delaware
    University of Delaware)

  • Eric Jorgenson

    (Division of Research)

Abstract

Cataract is the leading cause of blindness among the elderly worldwide and cataract surgery is one of the most common operations performed in the United States. As the genetic etiology of cataract formation remains unclear, we conducted a multiethnic genome-wide association meta-analysis, combining results from the GERA and UK Biobank cohorts, and tested for replication in the 23andMe research cohort. We report 54 genome-wide significant loci, 37 of which were novel. Sex-stratified analyses identified CASP7 as an additional novel locus specific to women. We show that genes within or near 80% of the cataract-associated loci are significantly expressed and/or enriched-expressed in the mouse lens across various spatiotemporal stages as per iSyTE analysis. Furthermore, iSyTE shows 32 candidate genes in the associated loci have altered gene expression in 9 different gene perturbation mouse models of lens defects/cataract, suggesting their relevance to lens biology. Our work provides further insight into the complex genetic architecture of cataract susceptibility.

Suggested Citation

  • Hélène Choquet & Ronald B. Melles & Deepti Anand & Jie Yin & Gabriel Cuellar-Partida & Wei Wang & Thomas J. Hoffmann & K. Saidas Nair & Pirro G. Hysi & Salil A. Lachke & Eric Jorgenson, 2021. "A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects," Nature Communications, Nature, vol. 12(1), pages 1-12, December.
    • Handle: RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-021-23873-8
    DOI: 10.1038/s41467-021-23873-8
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/s41467-021-23873-8
    File Function: Abstract
    Download Restriction: no
    File URL: https://libkey.io/10.1038/s41467-021-23873-8?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. Bingxin Zhao & Yujue Li & Zirui Fan & Zhenyi Wu & Juan Shu & Xiaochen Yang & Yilin Yang & Xifeng Wang & Bingxuan Li & Xiyao Wang & Carlos Copana & Yue Yang & Jinjie Lin & Yun Li & Jason L. Stein & Joa, 2024. "Eye-brain connections revealed by multimodal retinal and brain imaging genetics," Nature Communications, Nature, vol. 15(1), pages 1-19, December.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-021-23873-8. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.