A Common Variant in MTHFD1L is Associated with Increased Risk for Spina Bifida

Abstract

Genetic polymorphisms within folate pathway genes represent potentially meaningful risk factors for neural tube defects (NTDs).Here we investigated the association of three previously identified polymorphisms in the folate pathway gene MTHFD1L with spina bifida in a U.S. population consisting primarily of Hispanic and non-Hispanic Caucasians. MTHFD1L allele 1 was found to significantly reduce maternal risk of having a baby with spina bifida, while allele 3 significantly increased maternal risk to have a spina bifida baby. This study confirms that rs3832406 is associated with an increased risk of spina bifida.