Genetic epidemiology of neural tube defects.

Journal Article (Journal Article;Review)

It has been estimated that 60-70% of neural tube defects (NTDs) have a genetic component, but few causative genes have been identified. The lack of information on genes associated with non-syndromic NTDs in humans is especially notable as the "genomic revolution" has led to new tools (e.g., genome-wide genotyping arrays, next-generation sequencing) that are helping to elucidate the full spectrum of genetic variation (from common to rare) contributing to complex traits, including structural birth defects. However, the application of modern genomic approaches to the study of NTDs has lagged behind that of some other common structural birth defects. This may be due to the difficulty of assembling large study cohorts for anencephaly or spina bifida. The purpose of this review is to outline the evolution of genetic studies of NTDs, from studies of familial aggregation to candidate gene and genome-wide association studies, through whole-exome and whole-genome sequencing. Strategies for addressing gaps in NTD genetic research are also explored.

Full Text

Duke Authors

Cited Authors

  • Lupo, PJ; Agopian, AJ; Castillo, H; Castillo, J; Clayton, GH; Dosa, NP; Hopson, B; Joseph, DB; Rocque, BG; Walker, WO; Wiener, JS; Mitchell, LE

Published Date

  • December 11, 2017

Published In

Volume / Issue

  • 10 / 3-4

Start / End Page

  • 189 - 194

PubMed ID

  • 29125517

Pubmed Central ID

  • PMC8085973

Electronic International Standard Serial Number (EISSN)

  • 1875-8894

Digital Object Identifier (DOI)

  • 10.3233/PRM-170456


  • eng

Conference Location

  • Netherlands