AI Article Synopsis
- Nuclear cataract is the most prevalent type of cataract related to aging, contributing significantly to blindness globally.
- Researchers conducted a large multi-ethnic study with over 19,000 participants to identify genetic factors linked to this condition.
- They confirmed the association of the CRYAA gene and discovered five new genetic loci related to age-related nuclear cataract, highlighting the connection between this condition and genes involved in eye development.
Article Abstract
Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h = 0.48), but little is known about specific genetic factors underlying this condition. Here we report findings from the largest to date multi-ethnic meta-analysis of genome-wide association studies (discovery cohort N = 14,151 and replication N = 5299) of the International Cataract Genetics Consortium. We confirmed the known genetic association of CRYAA (rs7278468, P = 2.8 × 10) with nuclear cataract and identified five new loci associated with this disease: SOX2-OT (rs9842371, P = 1.7 × 10), TMPRSS5 (rs4936279, P = 2.5 × 10), LINC01412 (rs16823886, P = 1.3 × 10), GLTSCR1 (rs1005911, P = 9.8 × 10), and COMMD1 (rs62149908, P = 1.2 × 10). The results suggest a strong link of age-related nuclear cataract with congenital cataract and eye development genes, and the importance of common genetic variants in maintaining crystalline lens integrity in the aging eye.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733496 | PMC |
| http://dx.doi.org/10.1038/s42003-020-01421-2 | DOI Listing |
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