In conclusion, this study supports a causal effect of alcohol intake on hypertension and indicated that alcohol f</span>lushing may be a valid proxy for the ALDH2 rs671 polymorphism, which influences alcohol intake in this Korean population.
Self-reported flushing response had low sensitivity (56.8%) and high specificity (88.4%) in identifying rs671 A allele among male weekly alcohol consumers.
The ALDH2*2 allele (A-allele) at rs671 is more commonly carried by Asians and is associated with alcohol-related flushing, a strong adverse reaction to alcohol that is protective against drinking.
The ALDH2 Glu504Lys polymorphism was associated with EDD disorders in Chinese Han patients with EH, providing further evidence that this mutation and 'alcohol flush' are not harmless in this Asian population.
The Glu504Lys single nucleotide polymorphism (SNP) of ALDH2 gene, which is found in approximately 40% of the East Asian populations, causes defect in the enzyme activity of ALDH2, leading to alterations in acetaldehyde metabolism and alcohol-induced "flushing" syndrome.
When rs671 was considered as a candidate SNP in females, it explained 23.6% of the variation in flushing response, but alcohol consumption rates were too low among females-despite familial enrichment for AD-for an adequate test of association for either AD or maximum drinks.
Comparison between self-reported facial flushing after alcohol consumption and ALDH2 Glu504Lys polymorphism for risk of upper aerodigestive tract cancer in a Japanese population.