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 and Miguel E. Rentería
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Santiago Diaz-Torres: QIMR Berghofer Medical Research Institute
Samantha Sze-Yee Lee: The University of Western Australia
Luis M. García-Marín: QIMR Berghofer Medical Research Institute
Adrian I. Campos: QIMR Berghofer Medical Research Institute
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
Stuart MacGregor: QIMR Berghofer Medical Research Institute
Puya Gharahkhani: QIMR Berghofer Medical Research Institute
Miguel E. Rentería: QIMR Berghofer Medical Research Institute

Nature Communications, 2024, vol. 15, issue 1, 1-10

Abstract: 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.

Date: 2024
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DOI: 10.1038/s41467-024-53212-6

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