Article
A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.
American journal of human genetics - 1 Nov 2002
Brody Lawrence C, Conley Mary, Cox Christopher, Kirke Peadar N, McKeever Mary P, Mills James L, Molloy Anne M, O'Leary Valerie B, Parle-McDermott Anne, Scott John M, Swanson Deborah A
Abstract excerpt
Women who take folic acid periconceptionally reduce their risk of having a child with a neural tube defect (NTD) by >50%. A variant form of methylenetetrahydrofolate reductase (MTHFR) (677C-->T) is a known risk factor for NTDs, but the prevalence of the risk genotype explains only a small portion of the protective effect of folic acid. This has prompted the search for additional NTD-associated variants in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.