Programm                 "Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"


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Abstract
Abstract

Methylentetrahydrofolate Reductase (MTHFR) C677T Polymorphism is a Genetic Risk Factor for Primary Open-angle Glaucoma

Jünemann A.1, von Ahsen N.3, Lausen B.4, Roedl J.1,Henkel K.2, Römer K.2,Kornhuber J.2, Bleich S.2
1Department of Ophthalmology, 2Department of Psychiatry and Psychotherapy, 4Institute of Medical Informatics, Biometry and Epidemiology, Friedrich-Alexander-University of Erlangen-Nuremberg, 3Department of Clinical Chemistry, Georg-August-University of Göttingen, Germany

Purpose: Homocysteine can induce alterations in extracellular matrix and neuronal cell death that are characteristic findings in glaucoma. Homozygous or heterozygous thermolabile MTHFR deficiency are the most common etiological factors to cause moderate hyperhomocysteinaemia. This study was performed to determine the prevalence of thermolabile MTHFR C677T variant in patients with primary open-angle glaucoma (POAG) and secondary open-angle glaucoma (PEXG) due to pseudoexfoliation.
Method: MTHFR C677T genotyping was determined in patients with POAG (n=45), PEXG (n=44), and 29 controls with cataracts using real-time PCR on a LightCycler. Patients with other risk factors for hyperhomocysteinemia were excluded. Making the groups maximally comparable controls were matched to cases by age, gender and concurrent diagnosis of systemic hypertension. Statistics: Fisher's exact test, odds ratio (OR) with 95% confidence interval (CI).The study populations were in Hardy-Weinbe


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