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CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States.

Publication ,  Journal Article
Pasquale, LR; Loomis, SJ; Kang, JH; Yaspan, BL; Abdrabou, W; Budenz, DL; Chen, TC; Delbono, E; Friedman, DS; Gaasterland, D; Gaasterland, T ...
Published in: Am J Ophthalmol
February 2013

PURPOSE: To assess the association between single nucleotide polymorphisms (SNPs) of the gene region containing cyclin-dependent kinase inhibitor 2B antisense noncoding RNA (CDKN2B-AS1) and glaucoma features among primary open-angle glaucoma (POAG) patients. DESIGN: Retrospective observational case series. METHODS: We studied associations between 10 CDKN2B-AS1 SNPs and glaucoma features among 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. For each patient, we chose the feature from the eye with the higher value. We created cohort-specific multivariable models for glaucoma features and then meta-analyzed the results. RESULTS: For 9 of the 10 protective CDKN2B-AS1 SNPs with minor alleles associated with reduced disease risk (eg, the G allele at rs2157719), POAG patients carrying these minor alleles had smaller cup-to-disc ratio (0.05 units smaller per G allele at diagnosis; 95% CI: -0.08, -0.03; P = 6.23E-05) despite having higher intraocular pressure (IOP) (0.70 mm Hg higher per G allele at DNA collection; 95% CI: 0.40, 1.00; P = 5.45E-06). For the 1 adverse rs3217992 SNP with minor allele A associated with increased disease risk, POAG patients with A alleles had larger cup-to-disc ratio (0.05 units larger per A allele at diagnosis; 95% CI: 0.02, 0.07; P = 4.74E-04) despite having lower IOP (-0.57 mm Hg per A allele at DNA collection; 95% CI: -0.84, -0.29; P = 6.55E-05). CONCLUSION: Alleles of CDKN2B-AS1 SNPs, which influence risk of developing POAG, also modulate optic nerve degeneration among POAG patients, underscoring the role of CDKN2B-AS1 in POAG.

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Published In

Am J Ophthalmol

DOI

EISSN

1879-1891

Publication Date

February 2013

Volume

155

Issue

2

Start / End Page

342 / 353.e5

Location

United States

Related Subject Headings

  • Visual Fields
  • United States
  • Trabeculectomy
  • Retrospective Studies
  • RNA, Long Noncoding
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Optic Nerve Diseases
  • Optic Disk
  • Ophthalmology & Optometry
 

Citation

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Pasquale, L. R., Loomis, S. J., Kang, J. H., Yaspan, B. L., Abdrabou, W., Budenz, D. L., … Wiggs, J. L. (2013). CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. Am J Ophthalmol, 155(2), 342-353.e5. https://doi.org/10.1016/j.ajo.2012.07.023
Pasquale, Louis R., Stephanie J. Loomis, Jae H. Kang, Brian L. Yaspan, Wael Abdrabou, Donald L. Budenz, Teresa C. Chen, et al. “CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States.Am J Ophthalmol 155, no. 2 (February 2013): 342-353.e5. https://doi.org/10.1016/j.ajo.2012.07.023.
Pasquale LR, Loomis SJ, Kang JH, Yaspan BL, Abdrabou W, Budenz DL, et al. CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. Am J Ophthalmol. 2013 Feb;155(2):342-353.e5.
Pasquale, Louis R., et al. “CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States.Am J Ophthalmol, vol. 155, no. 2, Feb. 2013, pp. 342-353.e5. Pubmed, doi:10.1016/j.ajo.2012.07.023.
Pasquale LR, Loomis SJ, Kang JH, Yaspan BL, Abdrabou W, Budenz DL, Chen TC, Delbono E, Friedman DS, Gaasterland D, Gaasterland T, Grosskreutz CL, Lee RK, Lichter PR, Liu Y, McCarty CA, Moroi SE, Olson LM, Realini T, Rhee DJ, Schuman JS, Singh K, Vollrath D, Wollstein G, Zack DJ, Allingham RR, Pericak-Vance MA, Weinreb RN, Zhang K, Hauser MA, Richards JE, Haines JL, Wiggs JL. CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. Am J Ophthalmol. 2013 Feb;155(2):342-353.e5.
Journal cover image

Published In

Am J Ophthalmol

DOI

EISSN

1879-1891

Publication Date

February 2013

Volume

155

Issue

2

Start / End Page

342 / 353.e5

Location

United States

Related Subject Headings

  • Visual Fields
  • United States
  • Trabeculectomy
  • Retrospective Studies
  • RNA, Long Noncoding
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Optic Nerve Diseases
  • Optic Disk
  • Ophthalmology & Optometry