Please use this identifier to cite or link to this item: https://doi.org/10.1038/s41598-018-20435-9
Title: Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
Authors: Gharahkhani, P
Burdon, K.P
Cooke Bailey, J.N
Keywords: calcium binding protein
CRYGS protein, human
CYP26A1 protein, human
cytochrome P450 family 26
gamma crystallin
LIM homeobox transcription factor 1 beta
LIM homeodomain protein
LIM protein
LMO7 protein, human
membrane protein
muscle protein
MYOF protein, human
transcription factor
aged
case control study
endophenotype
female
genetic predisposition
genetics
genome-wide association study
genotype
glaucoma
human
intraocular pressure
male
metabolism
middle aged
oculoplethysmography
open angle glaucoma
optic disk
phenotype
physiology
procedures
risk factor
single nucleotide polymorphism
visual field
Aged
Calcium-Binding Proteins
Case-Control Studies
Endophenotypes
Female
gamma-Crystallins
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
Glaucoma
Glaucoma, Open-Angle
Humans
Intraocular Pressure
LIM Domain Proteins
LIM-Homeodomain Proteins
Male
Membrane Proteins
Middle Aged
Muscle Proteins
Optic Disk
Phenotype
Polymorphism, Single Nucleotide
Retinoic Acid 4-Hydroxylase
Risk Factors
Tonometry, Ocular
Transcription Factors
Visual Fields
Issue Date: 2018
Publisher: Nature Publishing Group
Citation: Gharahkhani, 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
Rights: Attribution 4.0 International
Abstract: Open-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).
Source Title: Scientific Reports
URI: https://scholarbank.nus.edu.sg/handle/10635/178432
ISSN: 2045-2322
DOI: 10.1038/s41598-018-20435-9
Rights: Attribution 4.0 International
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