Uncovering the Genetics Behind Fetal Alcohol Spectrum Disorders

Newswise — In 1973, a group of birth defects associated with prenatal ethanol exposure was clinically recognized as Fetal Alcohol Syndrome (FAS). Since then, scientists have come to realize that alcohol can cause a wide range of birth defects; these are collectively referred to as Fetal Alcohol Spectrum Disorders (FASD). Numerous variables influence the phenotypic expression of prenatal ethanol exposure and, among these variables, genetics appears to play an important role. However, our understanding of the genetic predisposition to FASD is still in its infancy.

This review examines the current literature on the genetics of FASD susceptibility and gene-ethanol interactions. The authors of this review also comment on potential mechanisms of reported gene-ethanol interactions.

Analysis indicates that many factors influence phenotypic outcomes following developmental ethanol exposure. Early indications of genetic sensitivity to FASD came from human and animal studies using twins or inbred strains, respectively. These analyses prompted searches for susceptibility loci involved in ethanol metabolism and analyses of candidate loci, based on phenotypes observed in FASD. More recently, genetic screens in animal models have provided additional insight into the genetics of FASD. The authors suggest that coordinated analyses using human patients and animal models could be highly fruitful in further uncovering the genetics underlying FASD.