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

  • 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 MacGregor
  • , Puya Gharahkhani
  • , Miguel E. Rentería

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number9116
JournalNature Communications
Volume15
Issue number1
DOIs
Publication statusPublished - Dec 2024
Externally publishedYes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

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