Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment

Mirna Kirin, Aman Chandra, David G Charteris, Caroline Hayward, Susan Campbell, Ivana Celap, Goran Bencic, Zoran Vatavuk, Iva Kirac, Allan J Richards, Albert Tenesa, Martin P Snead, Brian W Fleck, Jaswinder Singh, Steven Harsum, Robert E Maclaren, Anneke den Hollander, Malcolm G Dunlop, Carel B Hoyng, Alan F WrightHarry Campbell, Veronique Vitart, Danny Mitry

Research output: Contribution to journalArticlepeer-review

Abstract

Rhegmatogenous retinal detachment (RRD) is an important cause of vision loss and can potentially lead to blindness. The underlying pathogenesis is complex and incompletely understood. We applied a two-stage genetic association discovery phase followed by a replication phase in a combined total of 2,833 RRD cases and 7,871 controls. The discovery phase involved a genome-wide association scan of 867 affected individuals and 1953 controls from Scotland, followed by genotyping and testing 4,347 highest ranking or candidates SNPs in independent sets of cases (1,000) and controls (2,912) of Dutch and British origin. None of the SNPs selected reached a Bonferroni-corrected threshold for significance (p
Original languageEnglish
Pages (from-to)3174-3185
JournalHuman Molecular Genetics
Volume22
Issue number15
Early online date11 Apr 2013
DOIs
Publication statusPublished - 1 Aug 2013

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