Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects.
The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A-->C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A-->C. Our findings do not support a role for the 1298A-->C polymorphism in NTDs (OR 0.85 (95% CI 0.49-1.47), p= 0.55), nor do we observe a combined effect with the 677C-->T polymorphism.
Department of Biochemistry, Trinity College Dublin, Dublin, Ireland. parlema@tcd.ie
Anne
A
Parle-McDermott
James L
JL
Mills
Peadar N
PN
Kirke
Valerie B
VB
O'Leary
Deborah A
DA
Swanson
Faith
F
Pangilinan
Mary
M
Conley
Anne M
AM
Molloy
Christopher
C
Cox
John M
JM
Scott
Lawrence C
LC
Brody
D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009436:Neural Tube Defects / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*
D042965:Methylenetetrahydrofolate Reductase (NADPH2)