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Abstract #11826 Published in IGR 7-1
C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma
Junemann AG; von Ahsen N; Reulbach U; Roedl J; Bonsch D; Kornhuber J; Kruse FE; Bleich SAmerican Journal of Ophthalmology 2005; 139: 721-723
PURPOSE: To estimate the prevalence of C677T single nucleotide polymorphism in the 5,10-methylentetrahydrofolate reductase (MTHFR) gene in primary open-angle glaucoma (POAG) and pseudoexfoliation open-angle glaucoma (PEXG). DESIGN: Case-control study METHODS: MTHFR was assessed in 147 patients (76 POAG, 71 PEXG) and 71 control subjects with cataract. Associations of genotypes were assessed by Armitage's trend test and the corresponding odds ratio (OR) for allele positivity with 95% confidence interval (CI). RESULTS: We observed significant evidence of a higher prevalence of C677T in POAG (9% homozygote, 49% heterozygote, 42% wildtype, P = .01, OR = 2.38, 95% CI 1.23-4.62), but not in PEXG (9% homozygote, 41% heterozygote, 50% wildtype, P = .09, OR = 1.78, 95% CI 0.91-3.50) compared with the controls (3% homozygote, 34% heterozygote, 63% wildtype). CONCLUSIONS: The MTHFR C677T variant leading to moderate hyperhomocysteinemia may play a role in the pathogenesis of POAG acting as a genetic risk factor.
Dr. A.G. Junemann, Department of Ophthalmology, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Germany. anselm.juenemann@augen.imed.uni-erlangen.de
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)