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Uncovering genetic loci and biological pathways associated with age-related cataracts through GWAS meta-analysis

Author

Listed:
  • Santiago Diaz-Torres

    (QIMR Berghofer Medical Research Institute
    The University of Queensland)

  • Samantha Sze-Yee Lee

    (The University of Western Australia)

  • Luis M. García-Marín

    (QIMR Berghofer Medical Research Institute
    The University of Queensland)

  • Adrian I. Campos

    (QIMR Berghofer Medical Research Institute
    The University of Queensland
    Regeneron Genetics Center)

  • Garreth Lingham

    (The University of Western Australia)

  • Jue-Sheng Ong

    (QIMR Berghofer Medical Research Institute)

  • David A. Mackey

    (The University of Western Australia)

  • Kathryn P. Burdon

    (University of Tasmania)

  • Michael Hunter

    (The University of Western Australia)

  • Xianjun Dong

    (Brigham and Women’s Hospital and Harvard Medical School
    Brigham and Women’s Hospital and Harvard Medical School)

  • Stuart MacGregor

    (QIMR Berghofer Medical Research Institute
    The University of Queensland)

  • Puya Gharahkhani

    (QIMR Berghofer Medical Research Institute
    The University of Queensland
    Queensland University of Technology (QUT))

  • Miguel E. Rentería

    (QIMR Berghofer Medical Research Institute
    The University of Queensland)

Abstract

Age-related cataracts is a highly prevalent eye disorder that results in the clouding of the crystalline lens and is one of the leading causes of visual impairment and blindness. The disease is influenced by multiple factors including genetics, prolonged exposure to ultraviolet radiation, and a history of diabetes. However, the extent to which each of these factors contributes to the development of cataracts remains unclear. Our study identified 101 independent genome-wide significant loci, 57 of which are novel. We identified multiple genes and biological pathways associated with the cataracts, including four drug-gene interactions. Our results suggest a causal association between type 1 diabetes and cataracts. Also, we highlighted a surrogate measure of UV light exposure as a marker of cataract risk in adults.

Suggested Citation

  • Santiago Diaz-Torres & Samantha Sze-Yee Lee & Luis M. García-Marín & Adrian I. Campos & Garreth Lingham & Jue-Sheng Ong & David A. Mackey & Kathryn P. Burdon & Michael Hunter & Xianjun Dong & Stuart M, 2024. "Uncovering genetic loci and biological pathways associated with age-related cataracts through GWAS meta-analysis," Nature Communications, Nature, vol. 15(1), pages 1-10, December.
    • Handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-53212-6
    DOI: 10.1038/s41467-024-53212-6
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