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


OBJECTIVE
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.


CONCLUSIONS
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.
Mynett-Johnson
L A
LA
Department of Genetics, Smurfit Institute, Trinity College, Dublin, Ireland.
Keenan
C
C
Black
I L
IL
Livingstone
W J
WJ
Lawler
M
M
Roche
H M
HM
White
B
B
Gibney
M J
MJ
McKeon
P
P
Smith
O P
OP
D000328:Adult; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009660:Northern Ireland / Q000453:epidemiology; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*
D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)