Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract.

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 (h²?=?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^-16) with nuclear cataract and identified five new loci associated with this disease: SOX2-OT (rs9842371, P?=?1.7?×?10^-19), TMPRSS5 (rs4936279, P?=?2.5?×?10^-10), LINC01412 (rs16823886, P?=?1.3?×?10^-9), GLTSCR1 (rs1005911, P?=?9.8?×?10^-9), and COMMD1 (rs62149908, P?=?1.2?×?10^-8). 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.

SUBMITTER: Yonova-Doing E 

PROVIDER: S-EPMC7733496 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature