Abstract
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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Mynett-Johnson, L.A., Keenan, C., Black, I.L. et al. Thermolabile methylenetetrahydrofolate reductase (C677T): frequency in the Irish population. Ir J Med Sci 171, 37–39 (2002). https://doi.org/10.1007/BF03168940
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DOI: https://doi.org/10.1007/BF03168940