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H. Zetterberg, M. Zetterberg, J.A. Prince, G. Tasa, J.–O.O. Karlsson, K. Blennow; Methylenetetrahydrofolate Reductase Polymorphisms in Human Cataract . Invest. Ophthalmol. Vis. Sci. 2005;46(13):829.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: A protective effect of folate supplementation, which lowers homocysteine, has been reported against nuclear and cortical cataract. Here we investigate hyperhomocysteinemia–associated methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms in human cataract. 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 as compared to controls (20% versus 10%, p=0.0031). This effect was most pronounced in the mixed cataract group (p<0.001). Hyperhomocysteinemia–associated genotypes (MTHFR 677TT/1298AA and 677CT/1298AC) had similar frequencies in cataract and control groups. Conclusions: These data suggest that the protective effect of folate against cataract is not due to increased frequency of hyperhomocysteinemia–associated MTHFR genotypes among cataract patients. The strong overrepresentation of wild–type MTHFR, which directs folate to regulatory methylation reactions at the expense of its role in DNA synthesis, raises the possibility that impaired DNA synthesis may contribute to cataractogenesis.
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