ABSTRACT
To assess clinical availability of the aldehyde dehydrogenase (ALDH) 2 gene polymorphism to detect alcohol sensitivity among a Japanese population, we determined the ALDH 2 genotypes and also compared to an ethanol patch test in 119 young Japanese. Their alcohol sensitivity was evaluated by a questionnaire on the frequency of alcohol-associated symptoms when they drink. Genomic DNA was extracted from blood samples and amplified by polymerase chain reaction (PCR). PCR primers were flanking the polymorphic region in exon 12 of the ALDH 2 gene. The distribution of the typical homozygote, the heterozygote and the atypical homozygote was 63.9, 31.9 and 4.2%, respectively. Gene frequencies of the typical and atypical alleles calculated from the genotype frequencies were 0.80 and 0.20. The atypical genotypic homozygotes were positively associated with facial flushing symptom, but not with positive response for ethanol patch test. These results indicate that ALDH 2 genotypes determination is essential to detect alcohol sensitivity whereas the ethanol patch test has some limitations.
Subject(s)
Alcohol Drinking/genetics , Aldehyde Dehydrogenase/genetics , Ethanol/administration & dosage , Polymorphism, Genetic , Adolescent , Adult , Aldehyde Dehydrogenase, Mitochondrial , Female , Genetic Predisposition to Disease , Humans , Male , Mass Screening , Patch TestsABSTRACT
To assess the potential association between the angiotensin converting enzyme (ACE) gene polymorphism and the activity of the renin-angiotensin system in a Japanese population, we determined the ACE genotype and its enzyme activity in serum in 108 young Japanese females. Genomic DNA was extracted from blood samples and amplified by polymerase chain reaction (PCR). PCR primers flanked the polymorphic region in intron 16 of the ACE gene. The distribution of the DD, ID and II ACE genotypes was 10, 55 and 35%, respectively. The estimated allele frequencies of the deletion and the insertion were 0.375 and 0.625, respectively. The mean serum ACE activity in DD subjects was about 1.4 times that of II subjects (p < 0.01), with ID subjects having intermediate levels (p < 0.05), whereas the renin profile were not statistically different among the three groups. These results indicate a significant association between ACE gene polymorphism and serum ACE activity levels, suggesting a mechanism by which genotype might have a hearing on the physiology of the renin-angiotensin system axis.
