biostudies-literatureNag ANEI NIH HHSFight for SightMedical Research CouncilChief Scientist OfficeWellcome Trust3343-8https://www.ebi.ac.uk/biostudies/studies/S-EPMC4030784biostudies-literatureUnknown23(12)Glaucoma is a major cause of blindness in the world. To date, common genetic variants associated with glaucoma only explain a small proportion of its heritability. We performed a genome-wide association study of intra-ocular pressure (IOP), an underlying endophenotype for glaucoma. The discovery phase of the study was carried out in the TwinsUK cohort (N = 2774) analyzing association between IOP and single nucleotide polymorphisms (SNPs) imputed to HapMap2. The results were validated in 12 independent replication cohorts of European ancestry (combined N = 22 789) that were a part of the International Glaucoma Genetics Consortium. Expression quantitative trait locus (eQTL) analyses of the significantly associated SNPs were performed using data from the Multiple Tissue Human Expression ResouHuman molecular geneticsA genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort.PMC40307841329/301895/96MR/K023721/1WT081878MACZB/4/438R01EY018246-01-1Mackey DAYonova-Doing EUitterlinden AGLu YHammond CTai ESLemij HGWilliams KMAung THysi PGLiao JLotery AJHofman AViswanathan ACKlaver CCvan Koolwijk LMVingerling JRKhor CCTeo YYWang JJFleck BWYoung TLRamdas WDXu LTanja ZSpringelkamp HHewitt AWVitart VMitchell PNag AVenturini Cvan Duijn CMInternational Glaucoma Genetics ConsortiumCheng CYWong TYSmall KSHohn RJonas JBGibson JWojciechowski RMacgregor SVithana EfalseA genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort.Glaucoma is a major cause of blindness in the world. To date, common genetic variants associated with glaucoma only explain a small proportion of its heritability. We performed a genome-wide association study of intra-ocular pressure (IOP), an underlying endophenotype for glaucoma. The discovery phase of the study was carried out in the TwinsUK cohort (N = 2774) analyzing association between IOP and single nucleotide polymorphisms (SNPs) imputed to HapMap2. The results were validated in 12 independent replication cohorts of European ancestry (combined N = 22 789) that were a part of the International Glaucoma Genetics Consortium. Expression quantitative trait locus (eQTL) analyses of the significantly associated SNPs were performed using data from the Multiple Tissue Human Expression Resou2014-01-01T00:00:00Z2014 Jun2026-04-29T10:26:06.204Z2019-03-27T01:28:44ZS-EPMC40307842451867110.1093/hmg/ddu050