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Methylenetetrahydrofolate reductase genetic polymorphisms in patients with cataract
Madeleine Zetterberg1, Gunnar Tasa, Jonathan A Prince
1Institute of Clinical Neuroscience, Section of Ophthalmology, Sahlgrenska University Hospital, Göteborg University, Mölndal, Sweden. madeleine.zetterberg@anatcell.gu.se
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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