CDKN2B-AS1 Genotype–Glaucoma Feature Correlations in Primary Open-Angle Glaucoma Patients From the United States
| Autor: | Kang Zhang, E. DelBono, Sayoko E. Moroi, Donald L. Budenz, Richard K. Lee, Yutao Liu, Robert N. Weinreb, Michael A. Hauser, Paul R. Lichter, Margaret A. Pericak-Vance, Terry Gaasterland, Louis R. Pasquale, Lana M. Olson, R. Rand Allingham, Douglas Vollrath, Wael Abdrabou, Julia E. Richards, Tony Realini, Kuldev Singh, Catherine A. McCarty, Brian L. Yaspan, Douglas J. Rhee, Stephanie Loomis, Cynthia L. Grosskreutz, Jae H. Kang, David S. Friedman, Gadi Wollstein, Douglas E. Gaasterland, Janey L. Wiggs, Joel S. Schuman, Donald J. Zack, Teresa C. Chen, Jonathan L. Haines |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Intraocular pressure medicine.medical_specialty Genotype genetic structures Open angle glaucoma medicine.medical_treatment Optic Disk Optic disk Glaucoma Trabeculectomy Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Article Internal medicine Optic Nerve Diseases medicine Humans Alleles Intraocular Pressure Aged Retrospective Studies Aged 80 and over Genetics Middle Aged medicine.disease United States eye diseases Minor allele frequency Ophthalmology Phenotype Female RNA Long Noncoding sense organs Visual Fields Chromosomes Human Pair 9 Glaucoma Open-Angle |
| Zdroj: | American Journal of Ophthalmology. 155:342-353.e5 |
| ISSN: | 0002-9394 |
| DOI: | 10.1016/j.ajo.2012.07.023 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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