May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Methylenetetrahydrofolate Reductase Polymorphisms in Human Cataract
H. Zetterberg; M. Zetterberg; J.A. Prince; G. Tasa; J.–O.O. Karlsson; K. Blennow
Author Affiliations & Notes
  • H. Zetterberg
    Clinical Chemistry, Ophthalmology,
    Goteborg University, Goteborg, Sweden
  • M. Zetterberg
    Clinical Chemistry, Ophthalmology,
    Goteborg University, Molndal, Sweden
  • J.A. Prince
    Center of Genomics and Bioinformatics, Karolinska Institute, Stockholm, Sweden
  • G. Tasa
    Human Biology and Genetics, University of Tartu, Tartu, Estonia
  • J.–O.O. Karlsson
    Anatomy and Cell Biology, Experimental Neuroscience,
    Goteborg University, Goteborg, Sweden
  • K. Blennow
    Anatomy and Cell Biology, Experimental Neuroscience,
    Goteborg University, Molndal, Sweden
  • Footnotes
    Commercial Relationships  H. Zetterberg, None; M. Zetterberg, None; J.A. Prince, None; G. Tasa, None; J.O. Karlsson, None; K. Blennow, None.
  • Footnotes
    Support  Göteborg Medical Society, the Wenner–Gren Foundation, the Swedish Society for Medical Research
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 829. doi:
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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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Abstract

Abstract: : 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.

Keywords: cataract • genetics • clinical (human) or epidemiologic studies: risk factor assessment 
© 2005, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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