Welcome to CDC Stacks | Genetic Epidemiology and Nonsyndromic Structural Birth Defects: From Candidate Genes to Epigenetics - 29921 | CDC Public Access
Stacks Logo
Advanced Search
Select up to three search categories and corresponding keywords using the fields to the right. Refer to the Help section for more detailed instructions.
 
 
Help
Clear All Simple Search
Advanced Search
Genetic Epidemiology and Nonsyndromic Structural Birth Defects: From Candidate Genes to Epigenetics
Filetype[PDF - 380.36 KB]


Details:
  • Pubmed ID:
    24515445
  • Pubmed Central ID:
    PMC3981910
  • Description:
    Birth defects are a leading cause of infant morbidity and mortality worldwide. The vast majority of birth defects are nonsyndromic, and although their etiologies remain mostly unknown, evidence supports the hypothesis that they result from the complex interaction of genetic, epigenetic, environmental, and lifestyle factors. Since our last review published in 2002 describing the basic tools of genetic epidemiology used to study nonsyndromic structural birth defects, many new approaches have become available and have been used with varying success. Through rapid advances in genomic technologies, investigators are now able to investigate large portions of the genome at a fraction of previous costs. With next-generation sequencing, research has progressed from assessing a small percentage of single-nucleotide polymorphisms to assessing the entire human protein-coding repertoire (exome)-an approach that is starting to uncover rare but informative mutations associated with nonsyndromic birth defects. Herein, we report on the current state of the genetic epidemiology of birth defects and comment on future challenges and opportunities. We consider issues of study design, and we discuss common variant approaches, including candidate gene studies and genome-wide association studies. We also discuss the complexities embedded in exploring interactions between genes and the environment. We complete our review by describing new and promising next-generation sequencing technologies and examining how the study of epigenetic mechanisms could become the key to unraveling the complex etiologies of nonsyndromic structural birth defects.

  • Document Type:
  • Collection(s):
  • Funding:
    5U01 DD000491/DD/NCBDD CDC HHS/United States
    P01 HD035897/HD/NICHD NIH HHS/United States
    P30 CA016672/CA/NCI NIH HHS/United States
    R01 HD039054/HD/NICHD NIH HHS/United States
    R01 HD039054/HD/NICHD NIH HHS/United States
No Related Documents.
You May Also Like: