CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States.
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Pasquale Louis R, Loomis Stephanie J, Kang Jae H, Yaspan Brian L, Abdrabou Wael, Budenz Donald L, Chen Teresa C, Delbono Elizabeth, Friedman David S, Gaasterland Douglas, Gaasterland Terry, Grosskreutz Cynthia L, Lee Richard K, Lichter Paul R, Liu Yutao, McCarty Catherine A, Moroi Sayoko E, Olson Lana M, Realini Tony, Rhee Douglas J, Schuman Joel S, Singh Kuldev, Vollrath Douglas, Wollstein Gadi, Zack Donald J, Allingham R Rand, Pericak-Vance Margaret A, Weinreb Robert N, Zhang Kang, Hauser Michael A, Richards Julia E, Haines Jonathan L, Wiggs Janey L
Аннотация
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.