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Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma.

Publication ,  Journal Article
Gharahkhani, P; Burdon, KP; Cooke Bailey, JN; Hewitt, AW; Law, MH; Pasquale, LR; Kang, JH; Haines, JL; Souzeau, E; Zhou, T; Siggs, OM; Lynn, D ...
Published in: Sci Rep
February 15, 2018

Open-angle glaucoma (OAG) is a major cause of blindness worldwide. To identify new risk loci for OAG, we performed a genome-wide association study in 3,071 OAG cases and 6,750 unscreened controls, and meta-analysed the results with GWAS data for intraocular pressure (IOP) and optic disc parameters (the overall meta-analysis sample size varying between 32,000 to 48,000 participants), which are glaucoma-related traits. We identified and independently validated four novel genome-wide significant associations within or near MYOF and CYP26A1, LINC02052 and CRYGS, LMX1B, and LMO7 using single variant tests, one additional locus (C9) using gene-based tests, and two genetic pathways - "response to fluid shear stress" and "abnormal retina morphology" - in pathway-based tests. Interestingly, some of the new risk loci contribute to risk of other genetically-correlated eye diseases including myopia and age-related macular degeneration. To our knowledge, this study is the first integrative study to combine genetic data from OAG and its correlated traits to identify new risk variants and genetic pathways, highlighting the future potential of combining genetic data from genetically-correlated eye traits for the purpose of gene discovery and mapping.

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Published In

Sci Rep

DOI

EISSN

2045-2322

Publication Date

February 15, 2018

Volume

8

Issue

1

Start / End Page

3124

Location

England

Related Subject Headings

  • gamma-Crystallins
  • Visual Fields
  • Transcription Factors
  • Tonometry, Ocular
  • Risk Factors
  • Retinoic Acid 4-Hydroxylase
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Optic Disk
  • Muscle Proteins
 

Citation

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Gharahkhani, P., Burdon, K. P., Cooke Bailey, J. N., Hewitt, A. W., Law, M. H., Pasquale, L. R., … NEIGHBORHOOD consortium, . (2018). Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Sci Rep, 8(1), 3124. https://doi.org/10.1038/s41598-018-20435-9
Gharahkhani, Puya, Kathryn P. Burdon, Jessica N. Cooke Bailey, Alex W. Hewitt, Matthew H. Law, Louis R. Pasquale, Jae H. Kang, et al. “Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma.Sci Rep 8, no. 1 (February 15, 2018): 3124. https://doi.org/10.1038/s41598-018-20435-9.
Gharahkhani P, Burdon KP, Cooke Bailey JN, Hewitt AW, Law MH, Pasquale LR, et al. Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Sci Rep. 2018 Feb 15;8(1):3124.
Gharahkhani, Puya, et al. “Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma.Sci Rep, vol. 8, no. 1, Feb. 2018, p. 3124. Pubmed, doi:10.1038/s41598-018-20435-9.
Gharahkhani P, Burdon KP, Cooke Bailey JN, Hewitt AW, Law MH, Pasquale LR, Kang JH, Haines JL, Souzeau E, Zhou T, Siggs OM, Landers J, Awadalla M, Sharma S, Mills RA, Ridge B, Lynn D, Casson R, Graham SL, Goldberg I, White A, Healey PR, Grigg J, Lawlor M, Mitchell P, Ruddle J, Coote M, Walland M, Best S, Vincent A, Gale J, RadfordSmith G, Whiteman DC, Montgomery GW, Martin NG, Mackey DA, Wiggs JL, MacGregor S, Craig JE, NEIGHBORHOOD consortium. Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Sci Rep. 2018 Feb 15;8(1):3124.

Published In

Sci Rep

DOI

EISSN

2045-2322

Publication Date

February 15, 2018

Volume

8

Issue

1

Start / End Page

3124

Location

England

Related Subject Headings

  • gamma-Crystallins
  • Visual Fields
  • Transcription Factors
  • Tonometry, Ocular
  • Risk Factors
  • Retinoic Acid 4-Hydroxylase
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Optic Disk
  • Muscle Proteins