Genome-wide association study and meta-analysis of intraocular pressure

A. Bilge Ozel, Sayoko E. Moroi, David M. Reed, Melisa Nika, Caroline M. Schmidt, Sara Akbari, Kathleen Scott, Frank Rozsa, Hemant Pawar, David C. Musch, Paul R. Lichter, Doug Gaasterland, Kari Branham, Jesse Gilbert, Sarah J. Garnai, Wei Chen, Mohammad Othman, John Heckenlively, Anand Swaroop, Gonçalo AbecasisDavid S. Friedman, Don Zack, Allison Ashley-Koch, Megan Ulmer, Jae H. Kang, Yutao Liu, Brian L. Yaspan, Jonathan Haines, R. Rand Allingham, Michael A. Hauser, Louis Pasquale, Janey Wiggs, Julia E. Richards, Jun Z. Li

Research output: Contribution to journalArticlepeer-review

77 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)41-57
Number of pages17
JournalHuman Genetics
Issue number1
StatePublished - Jan 2014
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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