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Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects |
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| 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 |
| Institution: | (1) Department of Biochemistry, Trinity College Dublin, Dublin, Ireland,;(2) Division of Epidemiology, Statistics and Prevention Research, National Institute of Child Health and Human Development, National Institutes of Health, 20892, Bethesda, Md, USA,;(3) Child Health Epidemiology Division, Health Research Board, Dublin, Ireland,;(4) Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, 20892, Bethesda, Md, USA,;(5) Department of Clinical Medicine, Trinity College Dublin, Dublin, Ireland, |
| 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. Electronic Publication |
| Keywords: | MTHFR A1298C Neural tube defects C677T Linkage disequilibrium |
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