Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.

ABSTRACT:

Background

Neural tube defects (NTDs), which are among the most common congenital malformations, are influenced by environmental and genetic factors. Low maternal folate is the strongest known contributing factor, making variants in genes in the folate metabolic pathway attractive candidates for NTD risk. Multiple studies have identified nominally significant allelic associations with NTDs. We tested whether associations detected in a large Irish cohort could be replicated in an independent population.

Methods

Replication tests of 24 nominally significant NTD associations were performed in racially/ethnically matched populations. Family-based tests of fifteen nominally significant single nucleotide polymorphisms (SNPs) were repeated in a cohort of NTD trios (530 cases and th

SUBMITTER: Pangilinan F 

PROVIDER: S-EPMC4411759 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature