An A/G Polymorphism in the Promoter of Mitochondrial Aldehyde Dehydrogenase (ALDH2): Effects of the Sequence Variant on Transcription Factor Binding and Promoter Strength

Abstract

The -361 bp A/G polymorphism is common in all racial groups tested. The G allele was more active than the A allele in a transfection assay. The basis for this difference is not known. If the differences in activity of the promoter constructs were paralleled by differences in ALDH2 enzyme activity in the liver, this polymorphism could affect risk of alcoholism.