{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nag A"],"funding":["NEI NIH HHS","Fight for Sight","Medical Research Council","Chief Scientist Office","Wellcome Trust"],"pagination":["3343-8"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4030784"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(12)"],"pubmed_abstract":["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 Resou"],"journal":["Human molecular genetics"],"pubmed_title":["A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort."],"pmcid":["PMC4030784"],"funding_grant_id":["1329/30","1895/96","MR/K023721/1","WT081878MA","CZB/4/438","R01EY018246-01-1"],"pubmed_authors":["Mackey DA","Yonova-Doing E","Uitterlinden AG","Lu Y","Hammond C","Tai ES","Lemij HG","Williams KM","Aung T","Hysi PG","Liao J","Lotery AJ","Hofman A","Viswanathan AC","Klaver CC","van Koolwijk LM","Vingerling JR","Khor CC","Teo YY","Wang JJ","Fleck BW","Young TL","Ramdas WD","Xu L","Tanja Z","Springelkamp H","Hewitt AW","Vitart V","Mitchell P","Nag A","Venturini C","van Duijn CM","International Glaucoma Genetics Consortium","Cheng CY","Wong TY","Small KS","Hohn R","Jonas JB","Gibson J","Wojciechowski R","Macgregor S","Vithana E"],"additional_accession":[]},"is_claimable":false,"name":"A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort.","description":"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 Resou","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Jun","modification":"2026-04-29T10:26:06.204Z","creation":"2019-03-27T01:28:44Z"},"accession":"S-EPMC4030784","cross_references":{"pubmed":["24518671"],"doi":["10.1093/hmg/ddu050"]}}