Analysis of the MTHFR 1298A-->C and 677C-->T Polymorphisms As Risk Factors for Neural Tube Defects

Overview

Journal J Hum Genet

Specialty Genetics

Date 2003 May 6

PMID 12730722

Citations 18

Authors

Anne Parle-McDermott

James L Mills

Peadar N Kirke

Valerie B OLeary

Deborah A Swanson

Faith Pangilinan

Mary Conley

Anne M Molloy

Christopher Cox

John M Scott

Lawrence C Brody

Affiliations

Soon will be listed here.

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.

Citing Articles

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