Preferred Label : ALDH2*1/*2 Genotype Positive;
NCIt synonyms : ALDH2*1/*2 Genotype; ALDH2*1/*2; ALDH2*1/2 Heterozygote; Aldehyde Dehydrogenase 2 Family Member*1/*2 Genotype Positive; Heterozygous ALDH2*1/*2;
NCIt definition : An indication that simultaneous expression of the wild-type (ALDH2*1) and loss of
function (ALDH2*2) alleles of the ADLH2 gene have been detected in a sample.;
NCIt note : The ALDH2*2 allele carries a loss of function mutation that exerts a dominant negative
effect and even heterozygous expression drastically decreases ALDH2 activity in the
liver. Upon expression of this variant, decreased enzyme activity and increased turnover
in the liver causes accumulation of acetaldehyde in the circulation, even after a
moderate amount of alcohol intake, and is a factor in both acute alcohol intoxication
and greater susceptibility to some types of cancer. ALDH2*2 variant expression is
essentially absent among Europeans, but is highly prevalent among East Asians, where
it causes cutaneous flushing following alcohol consumption. (EntrezGene, OMIM, J Biomed
Sci. 2017; 24:19.);
NCI Metathesaurus CUI : CL1905579;
Origin ID : C192167;
UMLS CUI : C5784953;
Semantic type(s)
- concept_is_in_subset
- related_to_genetic_biomarker
