Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016382 (flushing)
 6,387 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A deficiency in low Km aldehyde dehydrogenase (ALDH2) is regarded as the main factor responsible for "Oriental flushing" and other symptoms due to alcohol sensitivity. In this study, the relationship of the ALDH2 genotype to alcohol-associated symptoms and drinking behavior was investigated in 524 Japanese workers, using a new, rapid, and nonisotopic polymerase chain reaction (PCR) method. Differences in the frequency of alcohol-associated manifestations between the normal homozygote and the other deficient types were apparent. In addition, among the ALDH2-deficient individuals, the atypical homozygote was obviously more hypersensitive to alcohol than the heterozygote, judging from the frequency of flushing or other drinking-associated manifestations with a small dose of alcohol. Drinking frequency also apparently decreased in the following order: typical homozygote, heterozygote, atypical homozygote. Similarly, mean amounts of alcohol consumption also decreased in the same order, although considerable variation existed within the typical homozygote and the heterozygote group. In contrast, neither the manifestations nor the drinking behavior were, in general, influenced by polymorphism of the alcohol dehydrogenase beta-subunit (ADH2) gene in males. These findings further indicate the important contribution of the ALDH2 genotype to alcohol sensitivity in Orientals.
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PMID:Characterization of the three genotypes of low Km aldehyde dehydrogenase in a Japanese population. 807 34

Alcohol-induced flushing occurs in Asians who possess ALDH2*2 alleles. This study genotyped 30 Asian American men for ALDH2 and evaluated them on two separate occasions where they received in random order placebo and 0.75 ml/kg alcohol. Blood samples were drawn at baseline and 15, 30, 60, 90, 120 and 150 minutes after beverage administration for subsequent estimation of blood alcohol and plasma cortisol levels. Subjects with ALDH2*2 alleles demonstrated significantly higher cortisol levels after alcohol consumption than subjects with ALDH2*1/2*1 genotype, despite equivalent blood alcohol concentrations. One subject who was homozygous for ALDH2*2 had extraordinarily high cortisol levels at 90, 120 and 150 minutes after alcohol. These data are consistent with the hypothesis that Asians with ALDH2*2 alleles, who flush after drinking, experience more intense reactions to alcohol than nonflushing Asians with ALDH2*1/2*1 genotype.
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PMID:Cortisol responses following placebo and alcohol in Asians with different ALDH2 genotypes. 818 41

Relationship between genotypes of the loci for ALDH2 and CYP2E1 and the flushing response as well as drinking pattern were investigated among 31 Japanese healthy persons. In 14 persons who showed flushing symptom and whose ALDH2 genotype was heterozygote (ALDH2*1/ALDH2*2), 6 persons whose CYP2E1 genotype was mutant homozygote or heterozygote (C2/C2 or C1/C2), reported to drink more frequently and their alcohol consumption was higher than that of C1/C1 carriers. However, 2 subjects possessing C2 allele in 3 persons carrying ALDH2 homozygous genotype showed very low alcohol consumption. It is concluded that a person heterozygous for ALDH2 and either mutant homozygous or heterozygous for CYP2E1 may become able to drink more alcohol, if his drinking pattern grows more frequent.
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PMID:[Contribution of the ALDH2 and CYP2E1 genes to flushing response and drinking patterns in Japanese healthy volunteers]. 826 22

Three methods were employed to assess whether human volunteers (Caucasian, Asian or Cree Indian) possessed the typical or atypical mitochondrial aldehyde dehydrogenase (ALDH2) isozyme. These methods were: (1) questioning individuals about facial flushing responses following alcohol consumption; (2) application of the ethanol skin patch test, and (3) direct analysis using isoelectric focusing and activity staining of ALDH activity in hair root samples. The results from the three methods were in good agreement and revealed that only the typical ALDH2 isozyme was expressed in Saskatchewan Cree Indians. In agreement with previous reports, the typical ALDH2 was expressed in the Caucasian group of subjects, while both the typical and atypical forms were expressed in the Asian subjects.
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PMID:Absence of the atypical mitochondrial aldehyde dehydrogenase (ALDH2) isozyme in Saskatchewan Cree Indians. 835 13

Approximately 50% of Asians experience a facial flush following alcohol ingestion. These individuals have an inactive form of mitochondrial aldehyde dehydrogenase (ALDH) encoded by the ALDH2*2 allele. This study matched 15 flushing and 15 nonflushing Asian men on demographics and drinking histories. The 30 subjects were genotyped for ALDH2 and were evaluated both before and following placebo and 0.75 ml/kg alcohol. The two groups did not differ significantly on blood alcohol concentrations after drinking, but did differ in electroencephalographic (EEG) response on the falling phase of the blood alcohol curve. Nonflushing subjects displayed significant increases in slow-alpha EEG activity (7.5-9.0 Hz) at 90 and 150 min post-alcohol consumption, compared to flushing subjects who did not show characteristic increases in this frequency band at these timepoints. These data suggest flushers, those with at least one ALDH2*2 allele, have less of slow-alpha wave EEG response to alcohol than nonflushers with ALDH2*1/2*1 genotype.
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PMID:Effects of alcohol on the EEG in Asian men with genetic variations of ALDH2. 837 42

To elucidate genetic susceptibility to alcoholic liver injury (ALD), polymerase chain reaction (PCR) method assay was developed to detect point mutations in each gene and gene frequency in various liver diseases was studied. It was shown previously that ALDH2(1) gene was more frequently found in patients with ALD (confirmed in this study), probably because they are able to consume too much alcohol (non-flushing type). This study revealed that, in addition to this ALDH heterogeneity, ADH heterogeneity may correlate with the severity of alcoholic liver injury, especially in those was low ADH activity and tend to have severe damage.
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PMID:[ADH 2, 3 and ALDH 2 gene frequency in Japanese alcoholics]. 846 54

The alcohol-flush reaction occurs in Asians who inherit the mutant ALDH2*2 allele that produces an inactive aldehyde dehydrogenase enzyme. In these individuals, high blood acetaldehyde levels are believed to be the cause of the unpleasant symptoms that follow drinking. We measured the alcohol elimination rates and intensity of flushing in Chinese subjects in whom the alcohol dehydrogenase ADH2 and ALDH2 genotypes were determined. We also correlated ADH2, ADH3, and ALDH2 genotypes with drinking behavior in 100 Chinese men. We discovered that ADH2*2 and ADH3*1, alleles that encode the high activity forms of alcohol dehydrogenase, as well as the mutant ALDH2*2 allele were less frequent in alcoholics than in controls. The presence of ALDH2*2 was associated with slower alcohol metabolism and the most intense flushing. In those homozygous for ALDH2*1, the presence of two ADH2*2 alleles correlated with slightly faster alcohol metabolism and more intense flushing, although a great deal of variability in the latter was noted.
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PMID:Alcohol and aldehyde dehydrogenase polymorphisms and alcoholism. 851 27

Self reports of flushing reaction after drinking, cutaneous sensitivity to alcohol (patch test), and genotypic determination of ADH2, ADH3, and ALDH2 were studied in 53 Brazilian volunteers of different ethnic groups. Genotypes were determined using single-strand conformation polymorphism in discontinuous buffer electrophoresis. Analysis of the results indicated several cases of a reported flushing reaction among ALDH2 1/1 individuals, while all but 2 cases of ALDH2 heterozygotes reported a flushing reaction. The latter subjects also had a negative result in the patch test. These preliminary results indicate that variability in the facial flushing reaction to alcohol seems to be a phenomenon resulting not only from the presence of a deficient ALDH2*2 allele, but also from other polymorphisms of alcohol-metabolizing enzymes.
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PMID:Alcohol flushing, patch test, and ADH and ALDH genotypes in Brazilian ethnic groups. 855 70

In humans, ingested alcohol is mainly metabolized by the combination of class I alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). In Orientals, there are highly frequent polymorphisms both in the class I ADH beta subunit (ADH2) and in the low Km ALDH (ALDH2). We characterized the three genotypes of ALDH2 in a Japanese population. In the present study, we evaluated the effects of the ADH2 polymorphism in the same population (424 males and 100 females) controlling for the effects of the ALDH2 polymorphism. In the ALDH2(1)/ALDH2(2) group, the frequency of facial flushing with one glass of beer was significantly higher in the ADH2(1)/ADH2(2) and ADH2(2)/ADH2(2) genotype than in the ADH2(1)/ADH2(1) genotype. Likewise, the proportion of persons with positive results for ethanol-induced cutaneous erythema differed significantly depending on the ADH2 genotype in both the ALDH2(1)/ALDH2(1) and ALDH2(1)/ALDH2(2) genotypes. However, drinking habits were not significantly associated with the ADH2 genotype, suggesting that the ADH2 genotype influences the metabolism of ethanol only in the peripheral tissues.
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PMID:The contribution of polymorphism in the alcohol dehydrogenase beta subunit to alcohol sensitivity in a Japanese population. 883 33

The purpose of this study is to clarify the relationship between hereditary predisposition and social-psychological factors in terms of drinking behavior of Japanese male students. The subjects were 123 male students who belonged to athletic clubs of K university in 1993. Regular drinking was evaluated as "drinking at home or with intimate friends" and party drinking as "drinking at club parties". On the two drinking occasions, the frequency and amount of drinking, and social drinking behavior were evaluated. Problem drinking behavior was investigated by a modified version of Aoyama's questionnaire (1984). Low Km aldehyde dehydrogenase (ALDH2) activity was evaluated by the facial flushing response to alcohol and the ethanol patch test. Evaluable results of the ethanol test as well as replies of the questionnaire were obtained from 109 students. Twenty-three students positive for both the facial flushing response to alcohol and the ethanol patch test were considered to be flushers, and 42 negative for both to be non-flushers. The non-flushers consumed a higher amount of alcohol than the flushers did on drinking occasions at home or with intimate friends. The number of problem drinking behavior items in the non-flushers was significantly higher than that in the flushers and increased with the amount and frequency of drinking. The ratio of students who had inappropriate drinking motivations, began to drink by themselves, or continued to offer alcohol to drinkers showing flushing even when they declined it, was significantly higher in the non-flushers than in the flushers. In addition, non-flushers showing such social drinking behavior drank more than those not showing such behavior. The frequency of positive or inappropriate drinking behavior was significantly lower in the flushers than in the non-flushers. However, the amount and frequency of drinking and problem drinking behavior were similar in the flushers and non-flushers. These results indicate that social drinking behavior of non-flushers influences not only themselves but also other drinkers, and that drinking of flushers is strongly influenced by social factors.
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PMID:[Analysis of flushing response to alcohol and drinking behavior in Japanese male students]. 910 76


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