Article
The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother.
American journal of human genetics - 1 Apr 1999
Shields D C, Kirke P N, Mills J L, Ramsbottom D, Molloy A M, Burke H, Weir D G, Scott J M, Whitehead A S
Abstract excerpt
Recent reports have implicated the "thermolabile" (T) variant of methylenetetrahydrofolate reductase (MTHFR) in the causation of folate-dependent neural tube defects (NTDs). We report herein the largest genetic study of NTD cases (n=271) and families (n=218) to date, establishing that, in Ireland, the "TT" genotype is found in 18.8% of cases versus 8.3% of controls (odds ratio 2.57; confidence interval [CI]...
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