Please use this identifier to cite or link to this item: https://doi.org/10.1038/s41598-018-20435-9
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dc.titleAnalysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
dc.contributor.authorGharahkhani, P
dc.contributor.authorBurdon, K.P
dc.contributor.authorCooke Bailey, J.N
dc.date.accessioned2020-10-20T09:56:58Z
dc.date.available2020-10-20T09:56:58Z
dc.date.issued2018
dc.identifier.citationGharahkhani, P, Burdon, K.P, Cooke Bailey, J.N (2018). Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Scientific Reports 8 (1) : 3124. ScholarBank@NUS Repository. https://doi.org/10.1038/s41598-018-20435-9
dc.identifier.issn2045-2322
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/178432
dc.description.abstractOpen-angle glaucoma (OAG) is a major cause of blindness worldwide. To identify new risk loci for OAG, we performed a genome-wide association study in 3,071 OAG cases and 6,750 unscreened controls, and meta-analysed the results with GWAS data for intraocular pressure (IOP) and optic disc parameters (the overall meta-analysis sample size varying between 32,000 to 48,000 participants), which are glaucoma-related traits. We identified and independently validated four novel genome-wide significant associations within or near MYOF and CYP26A1, LINC02052 and CRYGS, LMX1B, and LMO7 using single variant tests, one additional locus (C9) using gene-based tests, and two genetic pathways-"response to fluid shear stress" and "abnormal retina morphology"-in pathway-based tests. Interestingly, some of the new risk loci contribute to risk of other genetically-correlated eye diseases including myopia and age-related macular degeneration. To our knowledge, this study is the first integrative study to combine genetic data from OAG and its correlated traits to identify new risk variants and genetic pathways, highlighting the future potential of combining genetic data from genetically-correlated eye traits for the purpose of gene discovery and mapping. © 2018 The Author(s).
dc.publisherNature Publishing Group
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceUnpaywall 20201031
dc.subjectcalcium binding protein
dc.subjectCRYGS protein, human
dc.subjectCYP26A1 protein, human
dc.subjectcytochrome P450 family 26
dc.subjectgamma crystallin
dc.subjectLIM homeobox transcription factor 1 beta
dc.subjectLIM homeodomain protein
dc.subjectLIM protein
dc.subjectLMO7 protein, human
dc.subjectmembrane protein
dc.subjectmuscle protein
dc.subjectMYOF protein, human
dc.subjecttranscription factor
dc.subjectaged
dc.subjectcase control study
dc.subjectendophenotype
dc.subjectfemale
dc.subjectgenetic predisposition
dc.subjectgenetics
dc.subjectgenome-wide association study
dc.subjectgenotype
dc.subjectglaucoma
dc.subjecthuman
dc.subjectintraocular pressure
dc.subjectmale
dc.subjectmetabolism
dc.subjectmiddle aged
dc.subjectoculoplethysmography
dc.subjectopen angle glaucoma
dc.subjectoptic disk
dc.subjectphenotype
dc.subjectphysiology
dc.subjectprocedures
dc.subjectrisk factor
dc.subjectsingle nucleotide polymorphism
dc.subjectvisual field
dc.subjectAged
dc.subjectCalcium-Binding Proteins
dc.subjectCase-Control Studies
dc.subjectEndophenotypes
dc.subjectFemale
dc.subjectgamma-Crystallins
dc.subjectGenetic Predisposition to Disease
dc.subjectGenome-Wide Association Study
dc.subjectGenotype
dc.subjectGlaucoma
dc.subjectGlaucoma, Open-Angle
dc.subjectHumans
dc.subjectIntraocular Pressure
dc.subjectLIM Domain Proteins
dc.subjectLIM-Homeodomain Proteins
dc.subjectMale
dc.subjectMembrane Proteins
dc.subjectMiddle Aged
dc.subjectMuscle Proteins
dc.subjectOptic Disk
dc.subjectPhenotype
dc.subjectPolymorphism, Single Nucleotide
dc.subjectRetinoic Acid 4-Hydroxylase
dc.subjectRisk Factors
dc.subjectTonometry, Ocular
dc.subjectTranscription Factors
dc.subjectVisual Fields
dc.typeArticle
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.description.doi10.1038/s41598-018-20435-9
dc.description.sourcetitleScientific Reports
dc.description.volume8
dc.description.issue1
dc.description.page3124
dc.published.statepublished
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