Genetic Polymorphism of Cytochrome P‐4502E1 and Mitochondrial Aldehyde Dehydrogenase in a Korean Population

Abstract

Mitochondrial aldehyde dehydrogenase (ALDH2) is mainly responsible for the oxidation of acetaldehyde generated during alcohol oxidation in vivo. Cytochrome P-4502E1 (CYP2E1), a liver microsomal enzyme, also metabolizes acetaldehyde and ethanol. Genetic polymorphism of ALDH2 and CYP2E1 was investigated among 481 Korean adults. A new restriction fragment-length polymorphism method was developed to determine the genotype of the ALDH2 alleles. This method proved to be simpler and faster than the hybridization method using allele-specific oligonucleotide probes and polymerase chain reaction-directed mutagenesis. The allele frequencies of ALDH2(1) and ALDH2(2) were 0.840 and 0.160, respectively. This allele frequency of ALDH2(2) is less than in Japanese people. Genetic polymorphism of CYP2E1 was investigated using polymerase chain reaction and restriction fragment-length polymorphism. The estimated allele frequencies for c1 and c2 were 0.808 and 0.192.

Pooled Analysis of Alcohol Dehydrogenase Genotypes and Head and Neck Cancer: A HuGE Review

“…Similar patterns were seen among populations from Southeast Asia and Oceania, as well as some indigenous populations in Alaska, Mexico, and Chile (24). In contrast, the ALDH2*2 null allele was frequently observed in East Asian populations, typically with 30 percent ALDH2*1/2 heterozygosity and 5-10 percent ALDH2*2/2 homozygosity (24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(57)(58)(59). A similar pattern was also observed in an indigenous Brazilian population (24).…”

Alcohol consumption is associated with glaucoma severity regardless of ALDH2 polymorphism

“…Interestingly, the minor alleles of rs671 are very common in East Asians (being present in up to 50% of a given population), but less common in Caucasians 26,27 . The present study revealed an MAF for rs671 of 15.6%, which is quite consistent with previous findings from Korean populations 28,29 . The heterozygote and minor homozygotes for this SNP lead to decreased activity of ALDH2, affecting 17-35% and 1-3% of ALDH2 activities, respectively 30 .…”

Alcohol-metabolizing enzyme gene polymorphisms and alcohol chronic pancreatitis among Polish individuals

“…The ALDH2*2 allele occurs mainly in oriental populations, i.e. Japanese, Chinese, inhabitants of Taiwan and Korea, and protects against developing alcoholism and alcohol liver disease 2034–37. Its role in alcohol pancreatitis was not evaluated.…”