Skip to main content
Journal cover image

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

Publication ,  Journal Article
Ozel, AB; Moroi, SE; Reed, DM; Nika, M; Schmidt, CM; Akbari, S; Scott, K; Rozsa, F; Pawar, H; Musch, DC; Lichter, PR; Gaasterland, D; Chen, W ...
Published in: Hum Genet
January 2014

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.

Duke Scholars

Published In

Hum Genet

DOI

EISSN

1432-1203

Publication Date

January 2014

Volume

133

Issue

1

Start / End Page

41 / 57

Location

Germany

Related Subject Headings

  • White People
  • Risk Factors
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Membrane Proteins
  • Male
  • Macular Degeneration
  • Linear Models
  • Intraocular Pressure
  • Humans
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Ozel, A. B., Moroi, S. E., Reed, D. M., Nika, M., Schmidt, C. M., Akbari, S., … Li, J. Z. (2014). Genome-wide association study and meta-analysis of intraocular pressure. Hum Genet, 133(1), 41–57. https://doi.org/10.1007/s00439-013-1349-5
Ozel, A Bilge, Sayoko E. Moroi, David M. Reed, Melisa Nika, Caroline M. Schmidt, Sara Akbari, Kathleen Scott, et al. “Genome-wide association study and meta-analysis of intraocular pressure.Hum Genet 133, no. 1 (January 2014): 41–57. https://doi.org/10.1007/s00439-013-1349-5.
Ozel AB, Moroi SE, Reed DM, Nika M, Schmidt CM, Akbari S, et al. Genome-wide association study and meta-analysis of intraocular pressure. Hum Genet. 2014 Jan;133(1):41–57.
Ozel, A. Bilge, et al. “Genome-wide association study and meta-analysis of intraocular pressure.Hum Genet, vol. 133, no. 1, Jan. 2014, pp. 41–57. Pubmed, doi:10.1007/s00439-013-1349-5.
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 M, Kang JH, NEIGHBOR Consortium, Liu Y, Yaspan BL, Haines J, Allingham RR, Hauser MA, Pasquale L, Wiggs J, Richards JE, Li JZ. Genome-wide association study and meta-analysis of intraocular pressure. Hum Genet. 2014 Jan;133(1):41–57.
Journal cover image

Published In

Hum Genet

DOI

EISSN

1432-1203

Publication Date

January 2014

Volume

133

Issue

1

Start / End Page

41 / 57

Location

Germany

Related Subject Headings

  • White People
  • Risk Factors
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Membrane Proteins
  • Male
  • Macular Degeneration
  • Linear Models
  • Intraocular Pressure
  • Humans