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Thermolabile methylenetetrahydrofolate reductase (C677T): frequency in the Irish population
L A Mynett-Johnson1, C Keenan, I L Black
1Department of Genetics, Smurfit Institute, Trinity College, Dublin, Ireland.
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.
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