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

• Published in: Journal of human genetics Vol. 48; no. 4; pp. 190 - 193
• Main Authors: Parle-McDermott, Anne, Mills, James L, Kirke, Peadar N, O'Leary, Valerie B, Swanson, Deborah A, Pangilinan, Faith, Conley, Mary, Molloy, Anne M, Cox, Christopher, Scott, John M, Brody, Lawrence C
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01-04-2003
• Subjects: Case-Control Studies; DNA Mutational Analysis; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Ireland - epidemiology; Male; Methylenetetrahydrofolate reductase; Methylenetetrahydrofolate Reductase (NADPH2) - genetics; Neural tube defects; Neural Tube Defects - epidemiology; Neural Tube Defects - genetics; Polymorphism; Polymorphism, Genetic - genetics; Risk factors; Ireland
• ISSN: 1434-5161; 1435-232X
• DOI: 10.1007/s10038-003-0008-4

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.