CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States.
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ABSTRACT: 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.
SUBMITTER: Pasquale LR
PROVIDER: S-EPMC3544983 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Publications
CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States.
Pasquale Louis R LR Loomis Stephanie J SJ Kang Jae H JH Yaspan Brian L BL Abdrabou Wael W Budenz Donald L DL Chen Teresa C TC Delbono Elizabeth E Friedman David S DS Gaasterland Douglas D Gaasterland Terry T Grosskreutz Cynthia L CL Lee Richard K RK Lichter Paul R PR Liu Yutao Y McCarty Catherine A CA Moroi Sayoko E SE Olson Lana M LM Realini Tony T Rhee Douglas J DJ Schuman Joel S JS Singh Kuldev K Vollrath Douglas D Wollstein Gadi G Zack Donald J DJ Allingham R Rand RR Pericak-Vance Margaret A MA Weinreb Robert N RN Zhang Kang K Hauser Michael A MA Richards Julia E JE Haines Jonathan L JL Wiggs Janey L JL
American journal of ophthalmology 20121027 2
<h4>Purpose</h4>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.<h4>Design</h4>Retrospective observational case series.<h4>Methods</h4>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 ...[more]
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