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, fath...

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Veröffentlicht in:	Journal of human genetics 2003-01, Vol.48 (4), p.190-193
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	Biomedicine Case-Control Studies DNA Mutational Analysis Female Gene Expression Gene Frequency Gene Function Gene Therapy Genetic Predisposition to Disease Genotype Human Genetics Humans Ireland - epidemiology Male Methylenetetrahydrofolate reductase Methylenetetrahydrofolate Reductase (NADPH2) - genetics Molecular Medicine Neural tube defects Neural Tube Defects - epidemiology Neural Tube Defects - genetics Original Article Polymorphism Polymorphism, Genetic - genetics Risk factors
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Zusammenfassung:	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.
ISSN:	1434-5161 1435-232X
DOI:	10.1007/s10038-003-0008-4