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Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.

Publication ,  Journal Article
Ulmer, M; Li, J; Yaspan, BL; Ozel, AB; Richards, JE; Moroi, SE; Hawthorne, F; Budenz, DL; Friedman, DS; Gaasterland, D; Haines, J; Kang, JH ...
Published in: Invest Ophthalmol Vis Sci
July 3, 2012

PURPOSE: To investigate the effects of central corneal thickness (CCT)-associated variants on primary open-angle glaucoma (POAG) risk using single nucleotide polymorphisms (SNP) data from the Glaucoma Genes and Environment (GLAUGEN) and National Eye Institute (NEI) Glaucoma Human Genetics Collaboration (NEIGHBOR) consortia. METHODS: A replication analysis of previously reported CCT SNPs was performed in a CCT dataset (n = 1117) and these SNPs were then tested for association with POAG using a larger POAG dataset (n = 6470). Then a CCT genome-wide association study (GWAS) was performed. Top SNPs from this analysis were selected and tested for association with POAG. cDNA libraries from fetal and adult brain and ocular tissue samples were generated and used for candidate gene expression analysis. RESULTS: Association with one of 20 previously published CCT SNPs was replicated: rs12447690, near the ZNF469 gene (P = 0.001; β = -5.08 μm/allele). None of these SNPs were significantly associated with POAG. In the CCT GWAS, no SNPs reached genome-wide significance. After testing 50 candidate SNPs for association with POAG, one SNP was identified, rs7481514 within the neurotrimin (NTM) gene, that was significantly associated with POAG in a low-tension subset (P = 0.00099; Odds Ratio [OR] = 1.28). Additionally, SNPs in the CNTNAP4 gene showed suggestive association with POAG (top SNP = rs1428758; P = 0.018; OR = 0.84). NTM and CNTNAP4 were shown to be expressed in ocular tissues. CONCLUSIONS: The results suggest previously reported CCT loci are not significantly associated with POAG susceptibility. By performing a quantitative analysis of CCT and a subsequent analysis of POAG, SNPs in two cell adhesion molecules, NTM and CNTNAP4, were identified and may increase POAG susceptibility in a subset of cases.

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Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

July 3, 2012

Volume

53

Issue

8

Start / End Page

4468 / 4474

Location

United States

Related Subject Headings

  • Visual Fields
  • Risk Factors
  • RNA, Messenger
  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Organ Size
  • Ophthalmology & Optometry
  • Neural Cell Adhesion Molecules
  • Nerve Tissue Proteins
  • Middle Aged
 

Citation

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MLA
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Ulmer, M., Li, J., Yaspan, B. L., Ozel, A. B., Richards, J. E., Moroi, S. E., … Hauser, M. A. (2012). Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. Invest Ophthalmol Vis Sci, 53(8), 4468–4474. https://doi.org/10.1167/iovs.12-9784
Ulmer, Megan, Jun Li, Brian L. Yaspan, Ayse Bilge Ozel, Julia E. Richards, Sayoko E. Moroi, Felicia Hawthorne, et al. “Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.Invest Ophthalmol Vis Sci 53, no. 8 (July 3, 2012): 4468–74. https://doi.org/10.1167/iovs.12-9784.
Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, et al. Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4468–74.
Ulmer, Megan, et al. “Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.Invest Ophthalmol Vis Sci, vol. 53, no. 8, July 2012, pp. 4468–74. Pubmed, doi:10.1167/iovs.12-9784.
Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Hawthorne F, Budenz DL, Friedman DS, Gaasterland D, Haines J, Kang JH, Lee R, Lichter P, Liu Y, Pasquale LR, Pericak-Vance M, Realini A, Schuman JS, Singh K, Vollrath D, Weinreb R, Wollstein G, Zack DJ, Zhang K, Young T, Allingham RR, Wiggs JL, Ashley-Koch A, Hauser MA. Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4468–4474.

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

July 3, 2012

Volume

53

Issue

8

Start / End Page

4468 / 4474

Location

United States

Related Subject Headings

  • Visual Fields
  • Risk Factors
  • RNA, Messenger
  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Organ Size
  • Ophthalmology & Optometry
  • Neural Cell Adhesion Molecules
  • Nerve Tissue Proteins
  • Middle Aged