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Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.

Publication ,  Journal Article
Blue Mountains Eye Study (BMES), ; Wellcome Trust Case Control Consortium 2 (WTCCC2),
Published in: Hum Mol Genet
November 15, 2013

To discover quantitative trait loci for intraocular pressure, a major risk factor for glaucoma and the only modifiable one, we performed a genome-wide association study on a discovery cohort of 2175 individuals from Sydney, Australia. We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1. The findings in this region were confirmed through two UK replication cohorts totalling 4866 individuals (rs59072263, P(combined) = 1.10 × 10(-8)). A copy of the G allele at this SNP is associated with an increase in mean IOP of 0.45 mmHg (95%CI = 0.30-0.61 mmHg). These results lend support to the implication of vesicle trafficking and glucocorticoid inducibility pathways in the determination of intraocular pressure and in the pathogenesis of primary open-angle glaucoma.

Duke Scholars

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

November 15, 2013

Volume

22

Issue

22

Start / End Page

4653 / 4660

Location

England

Related Subject Headings

  • Risk Factors
  • Receptors, Glucocorticoid
  • Quantitative Trait Loci
  • Prospective Studies
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Intraocular Pressure
  • Humans
  • Glaucoma, Open-Angle
 

Citation

APA
Chicago
ICMJE
MLA
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Blue Mountains Eye Study (BMES), ., & Wellcome Trust Case Control Consortium 2 (WTCCC2), . (2013). Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus. Hum Mol Genet, 22(22), 4653–4660. https://doi.org/10.1093/hmg/ddt293
Blue Mountains Eye Study (BMES), A. C., and A. C. Wellcome Trust Case Control Consortium 2 (WTCCC2). “Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.Hum Mol Genet 22, no. 22 (November 15, 2013): 4653–60. https://doi.org/10.1093/hmg/ddt293.
Blue Mountains Eye Study (BMES), Wellcome Trust Case Control Consortium 2 (WTCCC2). Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus. Hum Mol Genet. 2013 Nov 15;22(22):4653–60.
Blue Mountains Eye Study (BMES), A. C., and A. C. Wellcome Trust Case Control Consortium 2 (WTCCC2). “Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.Hum Mol Genet, vol. 22, no. 22, Nov. 2013, pp. 4653–60. Pubmed, doi:10.1093/hmg/ddt293.
Blue Mountains Eye Study (BMES), Wellcome Trust Case Control Consortium 2 (WTCCC2). Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus. Hum Mol Genet. 2013 Nov 15;22(22):4653–4660.
Journal cover image

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

November 15, 2013

Volume

22

Issue

22

Start / End Page

4653 / 4660

Location

England

Related Subject Headings

  • Risk Factors
  • Receptors, Glucocorticoid
  • Quantitative Trait Loci
  • Prospective Studies
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Intraocular Pressure
  • Humans
  • Glaucoma, Open-Angle