Insights into the genetic basis of retinal detachment.

摘要: Retinal detachment (RD) is a serious and common condition, but genetic studies to date have been hampered by the small size of assembled cohorts. In UK Biobank data set, where RD was ascertained self-report or hospital records, correlations between high myopia cataract operation were, respectively, 0.46 (SE = 0.08) 0.44 (SE = 0.07). These are consistent with known epidemiological associations. Through meta-analysis genome-wide association using cases (N = 3 977) two cohorts, each comprising ~1 000 clinically rhegmatogenous patients, we uncovered 11 significant signals. near within ZC3H11B, BMP3, COL22A1, DLG5, PLCE1, EFEMP2, TYR, FAT3, TRIM29, COL2A1 LOXL1. Replication in 23andMe self-reported participants, firmly establishes six risk loci: ZC3H11B PLCE1. Based on associations eye traits described date, first specifically impact RD, whereas last four point shared aetiologies macular glaucoma. Fine-mapping prioritized lead missense variant (TYR S192Y) as causal at TYR locus set credible variants FAT3 locus. The larger study presented here, enabled resources linked health records self-report, provides novel insights into aetiology underlying pathological pathways.