Thermolabile methylenetetrahydrofolate reductase (C677T): frequency in the Irish population

L A Mynett-Johnson, I L Black, W J Livingstone, M Lawler, H M Roche, B White, M J Gibney, P McKeon, O P Smith, Mark Lawler

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3 Citations (Scopus)


BACKGROUND: The genetic variation which underlies the thermolability and low enzyme activity of 5,10-methylenetetrahydrofolate reductase (MTHFR; C677T) has been extensively studied in many populations, including the Irish population.

AIM: To describe the examination of the C677T substitution in two new control samples drawn from the Irish population.

METHODS: A collection of 487 serum samples was obtained through the blood transfusion services of both the Republic of Ireland and Northern Ireland and a further 115 samples from volunteers.

RESULTS: In both samples, the frequency of the thermolabile/low enzyme activity allele (T) was higher than that previously reported for the Irish population.

CONCLUSION: This finding thus supports the need for a greater use of internal control/family-based association studies, as opposed to the classic case control study design, when assessing the contribution of the MTHFR T allele to disease processes.

Original languageEnglish
Pages (from-to)37-9
Number of pages3
JournalIrish journal of medical science
Issue number1
Publication statusPublished - 08 May 2002


  • Adult
  • Alleles
  • Female
  • Gene Frequency
  • Genetic Variation
  • Humans
  • Ireland
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Northern Ireland
  • Oxidoreductases Acting on CH-NH Group Donors


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