CDKN2B-AS1 Genotype–Glaucoma Feature Correlations in Primary Open-Angle Glaucoma Patients From the United States - 12/01/13
, Stephanie J. Loomis a, Jae H. Kang b, Brian L. Yaspan c, Wael Abdrabou a, Donald L. Budenz d, Teresa C. Chen a, Elizabeth DelBono a, David S. Friedman e, Douglas Gaasterland f, Terry Gaasterland g, Cynthia L. Grosskreutz a, Richard K. Lee h, Paul R. Lichter i, Yutao Liu j, q, Catherine A. McCarty k, Sayoko E. Moroi i, Lana M. Olson c, Tony Realini l, Douglas J. Rhee a, Joel S. Schuman m, Kuldev Singh n, Douglas Vollrath o, Gadi Wollstein m, Donald J. Zack e, R. Rand Allingham j, Margaret A. Pericak-Vance h, Robert N. Weinreb p, Kang Zhang p, Michael A. Hauser j, q, Julia E. Richards i, r, Jonathan L. Haines c, Janey L. Wiggs a
Inquiries to Louis R. Pasquale, Massachusetts Eye and Ear Infirmary, 243 Charles St, Boston, MA 02114Résumé |
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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| Supplemental Material available at AJO.com. |
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| Dr McCarty is now at Essentia Institute of Rural Health, Duluth, Minnesota, and Dr Yaspan is now at Genentech Inc, San Francisco, California. |
Vol 155 - N° 2
P. 342 - février 2013 Retour au numéro
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