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Abstract #54668 Published in IGR 15-3
Genome-wide association study and meta-analysis of intraocular pressure
Ozel AB; Moroi SE; Reed DM; Nika M; Schmidt CM; Akbari S; Scott K; Rozsa F; Pawar H; Musch DC; Lichter PR; Gaasterland D; Branham K; Gilbert J; Garnai SJ; Chen W; Othman M; Heckenlively J; Swaroop A; Abecasis G; Friedman DS; Zack D; Ashley-Koch A; Ulmer MHuman Genetics 2014; 133: 41-57
Elevated intraocular pressure (IOP) is a major risk factor for glaucoma and is influenced by genetic and environmental factors. Recent genome-wide association studies (GWAS) reported associations with IOP at TMCO1 and GAS7, and with primary open-angle glaucoma (POAG) at CDKN2B-AS1, CAV1/CAV2, and SIX1/SIX6. To identify novel genetic variants and replicate the published findings, we performed GWAS and meta-analysis of IOP in >6,000 subjects of European ancestry collected in three datasets: the NEI Glaucoma Human genetics collaBORation, GLAUcoma Genes and ENvironment study, and a subset of the Age-related Macular Degeneration-Michigan, Mayo, AREDS and Pennsylvania study. While no signal achieved genome-wide significance in individual datasets, a meta-analysis identified significant associations with IOP at TMCO1 (rs7518099-G, p = 8.0 × 10(-8)). Focused analyses of five loci previously reported for IOP and/or POAG, i.e., TMCO1, CDKN2B-AS1, GAS7, CAV1/CAV2, and SIX1/SIX6, revealed associations with IOP that were largely consistent across our three datasets, and replicated the previously reported associations in both effect size and direction. These results confirm the involvement of common variants in multiple genomic regions in regulating IOP and/or glaucoma risk.
Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
Full articleClassification:
6.1.3 Factors affecting IOP (Part of: 6 Clinical examination methods > 6.1 Intraocular pressure measurement; factors affecting IOP)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
