Skip to main content
. 2019 May 4;393(10183):1831–1842. doi: 10.1016/S0140-6736(18)31772-0

Table 1.

Two east Asian genetic variants that alter alcohol metabolism

ALDH2 gene ADH1B gene
Enzyme* ALDH2, an aldehyde dehydrogenase ADH1, an alcohol dehydrogenase
Enzyme function Acetaldehyde breakdown, by oxidation to acetate Alcohol breakdown, by oxidation to acetaldehyde
Description of variants
SNP identifier rs671 rs1229984
Nucleotide change G→A G→A
Amino acid change Glu504→Lys Arg48→His
Enzyme activity change Decreased substantially Increased substantially
Alcohol clearance rate Unaffected Accelerated
Acetaldehyde clearance rate Decreased substantially Unaffected
Alcohol intake Reduced substantially Reduced

ALDH=aldehyde dehydrogenase. ADH=alcohol dehydrogenase. SNP=single nucleotide polymorphism.

*

ALDH2 is a tetramer of the ALDH2 gene product that requires all four parts to be functional, so a loss-of-function variant is nearly dominant. ADH1 is a dimer that requires two functional parts from the products of any of three similar genes, ADH1A, ADH1B, and ADH1C.

For ALDH2 and ADH1B, each of these amino acid changes can be described as altering the “*1” into the “*2” enzyme isoform.

The ADH1B-rs1229984 east Asian variant is nearly dominant, with AA and AG having similar effects on alcohol intake.