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)

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

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

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

To investigate the influence of the mitochondrial aldehyde dehydrogenase 2 (ALDH2) genotype on the clinical features of diabetes, 212 Japanese patients with non-insulin-dependent diabetes mellitus (NIDDM) (154 males and 58 females aged 17-83 years; mean age 58.2 years) were investigated. Genotyping of ALDH2 was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The pattern of inheritance of diabetes and various clinical parameters was compared between active and inactive ALDH2 groups. Of the 212 subjects, 120 had active ALDH2 and 92 had inactive ALDH2. The percentage of patients with a diabetic mother was higher in the inactive ALDH2 group (32.6%) than in the active ALDH2 group (19.2%) (p < 0.05). The prevalence of proliferative retinopathy was lower in the inactive ALDH2 group than in the active ALDH2 group (p < 0.05). However, other clinical parameters showed no difference. We conclude that maternal inheritance of diabetes was common in the inactive ALDH2 group. The finding is suggestive of a relationship between alcohol intolerance and inheritance of diabetes. We speculate that the interaction between mitochondrial DNA and ALDH2 inactivity causes an increase of mitochondrial DNA mutations or deletions, thereby inducing the maternal inheritance of diabetes. The relationship of the ALDH2 genotype with proliferative retinopathy is interesting, because it resembles that of chlorpropamide alcohol flushing with severe diabetic retinopathy. The interaction of aldehyde dehydrogenase isoenzymes might have an aetiological role, since aldehyde dehydrogenase 1 plays an important part in oxidation of retinal to retinoic acid. However, the number of affected patients with proliferative retinopathy was small, hence, our result should be considered as a preliminary finding.
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PMID:Association of aldehyde dehydrogenase with inheritance of NIDDM. 887 97

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

We determined the genotypes of the alcohol dehydrogenase (ALDH) and aldehyde dehydrogenase (ALDH2) loci of different ethnic groups living in Brazil, using saliva DNA amplified by PCR and allele-specific oligonucleotides. Self-reports of flushing reaction after drinking were also studied. The allelic frequencies of ADH2 and ALDH2 were found to be lower than those reported other authors, which might be a result of the admixture origin of the Brazilian population. Variability in facial flushing reaction suggests that other factors play a role in the expression of alcohol-induced flushing.
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PMID:Allele frequency of ADH2 and ALDH2 among Brazilians of different ethnic groups. 916 Jul 96

Alcohol is known to be mainly metabolized in the liver by alcohol dehydrogenase 2 (ADH2) and aldehyde dehydrogenase 2 (ALDH2), and cytochrome P-450IIEI. The purpose of this study was to clarify the role of polymorphism of these ethanol-metabolizing enzymes in drinking behavior and the progression of alcoholic liver disease among Japanese men. Polymorphism of the ADH2, ALDH2, and P-45IIEI genes were determined by polymerase chain reaction, followed by restriction fragment-length polymorphism analysis in 189 normal Japanese men and 26 male patients with alcoholic liver disease. Drinking behavior was estimated by self-assessment according to DSM-III-R criteria. Facial flushing was reported in 91 subjects heterozygous for ALDH2*1/*2 and in two subjects homozygous for ALDH2*2/*2, but was not found in 96 subjects homozygous for ALDH2*1/*1. In contrast, polymorphism of ADH2 and P-450IIEI did not differ between flushers and nonflushers. Although the flushers only drank a small amount of alcohol (< 20 g of ethanol/day), the nonflushers were divided into a group of moderate drinkers (20 to 80 g/day; n = 54) and a group of heavy drinkers (> 80 g/day; n = 42). A high preponderance of heterozygosity for the ADH2*1/*2 genes (20/42; 60%) and a high frequency of the ADH2*1 allele were found in heavy drinkers, compared with moderate drinkers. However, cytochrome P-45IIEI gene polymorphism was similar among the moderate and heavy drinkers. Not only a high frequency of the ALDH2*1 and ADH2*1 alleles, but also a high frequency of the P-450IIEI c2 allele was found in the patients with alcoholic liver disease. From these results, the drinking behavior of Japanese men is strongly influenced by the ALDH2*1 allele, and the level of alcohol intake is affected by the ADH2*1 allele, but not by cytochrome P-45IIEI. However, progression to alcoholic liver disease among heavy drinkers may be affected by the cytochrome P-450IIEI c2 allele.
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PMID:Polymorphism of alcohol-metabolizing genes affects drinking behavior and alcoholic liver disease in Japanese men. 919 10

Molecular epidemiology of esophageal and upper aerodigestive tract cancers revealed that alcohol is more carcinogenic in persons with inactive aldehyde dehydrogenase-2 (ALDH2) than in those with active ALDH2. A simple questionnaire has been developed to screen for the facial flushing that occurs in persons with inactive ALDH2 when they drink even a single glass of beer. In this study, 266 of 284 consecutive male Japanese clinic patients (age > or = 50 years) completed the flushing questionnaire, and 239 underwent the ethanol patch test (a cutaneous model for the flushing response). Blinded genotyping showed inactive ALDH2 for 94.4% (102 of 108) of subjects who reported always flushing (early in their drinking history or currently) and for 47.7% (21 of 44) of those who reported sometimes flushing, whereas 95.6% (109 of 114) of subjects reporting that they never exhibited facial flushing had active ALDH2. When all three categories of flushing (current always, former always, and sometimes) were collapsed into one, the questionnaire's sensitivity and specificity for identifying inactive ALDH2 were 96.1 and 79.0%, respectively, compared with 72.4 and 71.4% for the ethanol patch test. The results suggest the utility of this simple flushing questionnaire in daily practice, as well as large-scale studies to assess cancer risks associated with drinking and ALDH2 and for activities aimed at preventing alcohol-related cancer.
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PMID:Reliability of a flushing questionnaire and the ethanol patch test in screening for inactive aldehyde dehydrogenase-2 and alcohol-related cancer risk. 941 11

Mitochondrial aldehyde dehydrogenase (ALDH2) shows genetic polymorphism (Glu487Lys substitution) among Mongoloid populations, and the substitution is responsible for flushing symptom after alcohol intake. Recently, new ALDH2 alleles (ALDH2*3 and ALDH2*2Taiwan) in exon12 were reported in North American Indians and in Chinese from Taiwan by Novoradskey et al (1995). In the present study, we investigated the new allelic variants in exon12 for the five different ethnic groups (Mongolian, North Chinese, South Chinese, Myanmar, Japanese) by using PCR-SSCP and PCR-direct sequencing. Also, Glu 487 Lys substitution was analyzed to obtain additional information on gene geography of ALDH2 alleles in Asia reported so far. No new variants were found in the five population groups, but ALDH2*2 allele showed different frequencies among these groups. Especially, the frequencies of ALDH2*2 in Myanmer (0.02) and Mongolian (0.05) were significantly lower than other populations.
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PMID:[Investigation for polymorphism of ALDH2 exon12 in several Asian areas]. 961 2


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