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J Hum Genet. 2003;48(4):190-3. Epub 2003 Mar 5.

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

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

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.

PMID:
12730722
DOI:
10.1007/s10038-003-0008-4
[Indexed for MEDLINE]
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