Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects

Anne Parle-McDermott; James L Mills; Peadar N Kirke; Valerie B O'Leary; Deborah A Swanson; Faith Pangilinan; Mary Conley; Anne M Molloy; Christopher Cox; John M Scott; Lawrence C Brody

doi:10.1007/s10038-003-0008-4

Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects

J Hum Genet. 2003;48(4):190-3. doi: 10.1007/s10038-003-0008-4. Epub 2003 Mar 5.

Authors

Anne Parle-McDermott¹, James L Mills, Peadar N Kirke, Valerie B O'Leary, Deborah A Swanson, Faith Pangilinan, Mary Conley, Anne M Molloy, Christopher Cox, John M Scott, Lawrence C Brody

Affiliation

¹ Department of Biochemistry, Trinity College Dublin, Dublin, Ireland. parlema@tcd.ie

PMID: 12730722
DOI: 10.1007/s10038-003-0008-4

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Case-Control Studies
DNA Mutational Analysis
Female
Gene Frequency
Genetic Predisposition to Disease*
Genotype
Humans
Ireland / epidemiology
Male
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Neural Tube Defects / epidemiology
Neural Tube Defects / genetics*
Polymorphism, Genetic / genetics*

Substances

Methylenetetrahydrofolate Reductase (NADPH2)