Methylenetetrahydrofolate reductase genetic polymorphisms in patients with cataract.

• 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.

Nyckelord

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

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)