Alcohol dehydrogenase 1B genotype and fetal alcohol syndrome: a HuGE minireview

作者：Green Ridgely Fisk^*; Stoler Joan Marilyn

来源：American Journal of Obstetrics and Gynecology, 2007, 197(1): 12-25.

DOI：10.1016/j.ajog.2007.02.028

• ADH1B
• ADH2
• alcohol dehydrogenase
• epidemiology
• fetal alcohol syndrome

Fetal alcohol syndrome ( FAS), 1 of the most common developmental disabilities in the United States, occurs at a rate of 0.5- 2.0: 1000 live births. Animal model, family, and twin studies suggest a genetic component to FAS susceptibility. Alcohol dehydrogenases ( ADHs) catalyze the rate-limiting step in alcohol metabolism. Studies of genetic associations with FAS have focused on the alcohol dehydrogenase 1B ( ADH1B) gene, comparing mothers and children with the alleles ADH1B* 2 or ADH1B* 3, associated with faster ethanol metabolism, with those homozygous for ADH1B* 1. While most studies have found a protective effect for genotypes containing ADH1B* 2 or ADH1B* 3, results have been conflicting, and further investigation into the association between the ADH1B genotype and FAS is needed. Whether increased alcohol intake accounts for the elevated risk reported for the ADH1B* 1/ ADH1B* 1 genotype should be addressed, and future studies would benefit from consistent case definitions, enhanced exposure measurements, larger sample sizes, and careful study design.

• 出版日期2007-7