QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.
Nat Commun. 2024 Oct 23;15(1):9116. doi: 10.1038/s41467-024-53212-6.
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.
年龄相关性白内障是一种高发的眼部疾病，会导致晶状体混浊，是导致视力损害和失明的主要原因之一。该疾病受多种因素影响，包括遗传、长时间暴露在紫外线下和糖尿病史。然而，这些因素中每一个对白内障发展的影响程度尚不清楚。我们的研究确定了 101 个独立的全基因组显著位点，其中 57 个是新的。我们鉴定出与白内障相关的多个基因和生物学途径，包括四个药物-基因相互作用。我们的研究结果表明 1 型糖尿病与白内障之间存在因果关系。此外，我们还强调了紫外线暴露的替代测量指标作为成年人白内障风险的标志物。
