Genetic Epidemiology of Neural Tube Defects

Details

• Alternative Title:
  J Pediatr Rehabil Med
• Personal Author:
  Lupo, Philip J. ; Agopian, A.J. ; Castillo, Heidi ; Castillo, Jonathan ; Clayton, Gerald H. ; Dosa, Nienke P. ; Hopson, Betsy ; Joseph, David B. ; Rocque, Brandon G. ; Walker, William O. ; Wiener, John S. ; Mitchell, Laura E.
• Description:
  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.
• Subjects:
  Europe Exome Sequencing Genetic Markers Genetic Predisposition To Disease Genome-Wide Association Study Humans Molecular Epidemiology Neural Tube Defects United States Whole Genome Sequencing
• Keywords:
  Epidemiology Genetics Human Studies Spina Bifida
• Source:
  J Pediatr Rehabil Med. 10(3-4):189-194
• Pubmed ID:
  29125517
• Pubmed Central ID:
  PMC8085973
• Document Type:
  Journal Article
• Funding:
  U01 DD001070/DD/NCBDD CDC HHSUnited States/ ; U01 DD001082/DD/NCBDD CDC HHSUnited States/ ; U01 DD001265/DD/NCBDD CDC HHSUnited States/
• Volume:
  10
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:d269f49c5ba7d2c494c63b0752e3473f5f0b17925c2535ec20ab18977c402f43
• Download URL:
  https://stacks.cdc.gov/view/cdc/106266/cdc_106266_DS1.pdf
• File Type:
  [PDF - 63.60 KB ]