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.
| Original language | English |
|---|---|
| Pages (from-to) | 37-9 |
| Number of pages | 3 |
| Journal | Irish journal of medical science |
| Volume | 171 |
| Issue number | 1 |
| Publication status | Published - 08 May 2002 |
Keywords
- Adult
- Alleles
- Female
- Gene Frequency
- Genetic Variation
- Humans
- Ireland
- Male
- Methylenetetrahydrofolate Reductase (NADPH2)
- Northern Ireland
- Oxidoreductases Acting on CH-NH Group Donors