ArticleHuman molecular genetics2014
A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.Human molecular genetics · 2016Pooled it
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- Glaucoma Patients Have a Lower Abundance of Butyrate-Producing Taxa in the Gut.Investigative ophthalmology & visual science · 2024Article
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- 10 Years of GWAS in intraocular pressure.Frontiers in genetics · 2023Review
- Genetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma.Scientific reports · 2022Article
- Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma.Cell genomics · 2022Article
- Identification of Estrogen Signaling in a Prioritization Study of Intraocular Pressure-Associated Genes.International journal of molecular sciences · 2021Article
- Using BXD mouse strains in vision research: A systems genetics approach.Molecular vision · 2020Review
- Novel genetic variants ofAmerican journal of cancer research · 2020Article
- Polygenic Risk Score Is Associated With Intraocular Pressure and Improves Glaucoma Prediction in the UK Biobank Cohort.Translational vision science & technology · 2019Article
- Genome-wide association analyses identify new loci influencing intraocular pressure.Human molecular genetics · 2018Article
- Genomic Locus Modulating IOP in the BXD RI Mouse Strains.G3 (Bethesda, Md.) · 2018Article
- Genetic Risk Factors for Glaucoma and Exfoliation Syndrome Identified by Genome-wide Association Studies.Current neuropharmacology · 2018Review
- A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.Nature communications · 2017Article
- Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility.Nature communications · 2017Article
- Major review: Molecular genetics of primary open-angle glaucoma.Experimental eye research · 2017Review
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Authors and funding
9 authors at 7 institutions in 3 countries.
Funding
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 Resource (MuTHER) Study. In the TwinsUK cohort, IOP was significantly associated with a number of SNPs at 9q33.3 (P = 3.48 × 10(-8) for rs2286885, the most significantly associated SNP at this locus), within the genomic sequence of the FAM125B gene. Independent replication in a composite panel of 12 cohorts revealed consistent direction of effect and significant association (P = 0.003, for fixed-effect meta-analysis). Suggestive evidence for an eQTL effect of rs2286885 was observed for one of the probes targeting the coding region of the FAM125B gene. This gene codes for a component of a membrane complex involved in vesicular trafficking process, a function similar to that of the Caveolin genes (CAV1 and CAV2) which have previously been associated with primary open-angle glaucoma. This study suggests a novel association between SNPs in FAM125B and IOP in the TwinsUK cohort, though further studies to elucidate the functional role of this gene in glaucoma are necessary.
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