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Methylenetetrahydrofolate reductase genetic polymorphisms in patients with cataract.

Journal article
Authors Madeleine Zetterberg
Gunnar Tasa
Jonathan A Prince
Mona Palmér
Erkki Juronen
Siiri Veromann
Pait Teesalu
Jan-Olof Karlsson
Kaj Blennow
Henrik Zetterberg
Published in American journal of ophthalmology
Volume 140
Issue 5
Pages 932-4
ISSN 0002-9394
Publication year 2005
Published at Institute of Clinical Neurosciences, Section of Ophtalmology
Institute of Anatomy and Cell Biology
Institute of Clinical Neurosciences, Section of Experimental Neuroscience
Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine
Pages 932-4
Language en
Keywords Adult, Aged, Aged, 80 and over, Case-Control Studies, Cataract, enzymology, genetics, DNA Mutational Analysis, Female, Gene Frequency, Genotype, Humans, Hyperhomocysteinemia, genetics, Male, Methylenetetrahydrofolate Reductase (NADPH2), genetics, Middle Aged, Polymorphism, Genetic, Retrospective Studies, Sequence Analysis, DNA
Subject categories Medical and Health Sciences


PURPOSE: Hyperhomocysteinemia is commonly associated with polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene. The level of homocysteine can be lowered by dietary intake of folate. A protective effect of folate supplementation has been reported against cataract. Here we investigate MTHFR polymorphisms in human cataract. DESIGN: Retrospective case-control association study. METHODS: Patients with nuclear (n = 77), cortical (n = 155), posterior subcapsular (n = 119), and mixed (n = 151) cataract, and 187 controls were analyzed for the MTHFR 677C-->T and 1298A-->C polymorphisms using minisequencing technique. RESULTS: The wild-type MTHFR 677CC/1298AA genotype was strongly overrepresented among cataract cases (P = .003). This effect was most pronounced in the mixed cataract group (P < .001). Hyperhomocysteinemia-associated genotypes had similar frequencies in cataract and control groups. CONCLUSIONS: The previously reported protective effect of folate against cataract is not due to overrepresentation of hyperhomocysteinemia-associated MTHFR genotypes. Instead, the strong predominance of wild-type MTHFR in cataract may suggest impaired DNA synthesis as a cataractogenic factor.

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