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Insight into the genetic aetiology of retinal detachment by combining small clinical and large population-based datasets

By Thibaud Boutin, David G Charteris, Aman Chandra, Susan Campbell, Caroline Hayward, Archie Campbell, UK Biobank Eye & Vision Consortium, Priyanka Nandakumar, David Hinds, 23andMe Research Team, Danny Mitry, Veronique Vitart

Posted 18 Mar 2019
bioRxiv DOI: 10.1101/581165

Idiopathic retinal detachment is a serious common condition, but genetic studies to date have been hampered by the small size of the assembled cohorts. Genetic correlations between retinal detachment and high myopia or cataract operation were high, respectively 0.46 (SE=0.08) and 0.44 (SE=0.07), in the UK Biobank dataset and in line with known epidemiological associations. Meta-analysis of genome-wide association studies using UK Biobank retinal detachment cases (N=3977) and two cohorts, each comprising ~1000 rhegmatogenous retinal detachment patients, uncovered 11 genome-wide significant association signals, near or within ZC3H11B, BMP3, COL22A1, DLG5, PLCE1, EFEMP2, TYR, FAT3, TRIM29, COL2A1 and LOXL1. Replication in the 23andMe dataset, where retinal detachment is self-reported by participants, firmly establishes association at six loci FAT3, COL22A1, TYR, BMP3, ZC3H11B and PLCE1. The former two seem to particularly impact on retinal detachment, the latter three shed light on shared aetiologies with cataract, myopia and glaucoma.

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