Association study of the Ile349val polymorphism of the gene ADH1C and alcohol dependence

Rebello, A.; Carvalho, Maria da Glória da Costa

doi:10.1590/s0047-20852011000100002

Cited by 3 publications

(7 citation statements)

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“…In this study, there was a frequency of 50% for this same SNP. That is, for the Goiânia alcoholic population, the frequency of the mutant allele is reduced compared to the previous study (Rebello et al, 2011). The ADH1C*2 polymorphism has an allelic frequency of 56.2% in the African-American population (DataBase SNP, 2015).…”

Section: Discussionmentioning

confidence: 73%

“…Despite many studies that contemplate the analyses of SNPs ADH1B*2, ADH1C*2, ADH4*2 e, and ALDH2*2 in individuals from different states of Brazil (Guindalini et al, 2005;Rebello et al, 2011), there are no reports thus far with data of the allele and genotype frequency of these individuals in the population here evaluated. So, it is possible to correlate the frequency data of the population obtained in this study with the frequency data from the populations in which the population profile is closer to the overall Brazilian population, as, for example, the African-American population.…”

Section: Discussionmentioning

confidence: 99%

“…No such studies have been conducted on the population from the Midwest region of Brazil. Brazilian studies about alcoholism and polymorphism are concentrated in São Paulo (Guindalini et al, 2005;Nishimoto et al, 2004), Rio de Janeiro (Rebello, Moura-Neto, & Carvalho, 2011), and in the Amazon region (Rebello et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

First description and evaluation of SNPs in the ADH and ALDH genes in a population of alcoholics in Central-West Brazil

Teixeira

Silva

Goveia

et al. 2017

Alcohol

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Worldwide, different studies have reported an association of alcohol-use disorder (AUD) with different types of Single Nucleotide Polymorphisms (SNPs) in the genes for aldehyde dehydrogenase (ALDH) and alcohol dehydrogenase (ADH). In Brazil, there is little information about the occurrence of these SNPs in the AUD population and an absence of studies characterizing the population in the Central-West Region of Brazil. Actually, in Brazil, there are more than 4 million people with AUD. Despite the major health hazards of AUD, information on alcohol consumption and its consequences are not well understood. Therefore, it is extremely important to characterize these SNPs for the better understanding of AUD as a genetic disease in the Brazilian population. The present study, unlike other studies in other countries, is done with a subject population that shows a significant amount of racial homogenization. We evaluated the presence of SNPs in the ADH (ADH1B, ADH1C, and ADH4) and ALDH (ALDH2) genes in alcohol users of Goiânia, State of Goiás - Brazil, and then we established a possible relationship with AUD by allelic and genotypic study. This study was conducted with a population of people with AUD (n = 99) from Goiás Alcohol Dependence Recovery Center (GO CEREA) and Psychosocial Care Center for Alcohol and Drugs (CAPS AD), and with a population of people without AUD as controls (n = 100). DNA was extracted from whole-blood samples and the genotyping was performed using TaqMan SNP genotyping assays. For characterization and evaluation of SNPs in the population, genotype frequency, allele frequency, haplotype frequency, Hardy-Weinberg equilibrium, and linkage disequilibrium were analyzed. Statistical analyses were calculated by GENEPOP 4.5 and Haploview software. The allele 1 was considered as "wild" (or *1) and allele 2 as mutant (or *2). Significant differences were found for ADH1B*, ADH4*2, and ALDH2*2 SNPs when the genotype and allele frequencies were analyzed. In addition, four haplotypes were observed between ADH1B*2 and ADH1C*2 through linkage disequilibrium analysis. The genetic variants may be associated with protection against AUD in the population studied.

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Section: Discussionmentioning

confidence: 73%

Section: Discussionmentioning

confidence: 99%

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First description and evaluation of SNPs in the ADH and ALDH genes in a population of alcoholics in Central-West Brazil

Teixeira

Silva

Goveia

et al. 2017

Alcohol

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show abstract

“…Although ADH1C gene polymorphisms (Arg272Gln and Ile350Val) have a considerable frequency in our sample (28.2% for both), they were not associated with HD and BD. Another study with Brazilian samples has also not presented association between the polymorphism Ile350Val and HD (Rebello et al., ). These results were not surprising as the γ 2 subunit of the ADH (haplotype ADH1C*2 / ADH1C*2 ) does not have as high a biochemical difference in the conversion of alcohol to aldehyde (2.5 times slower than γ 1) (Hurley and Edenberg, ; Wang et al., ).…”

Section: Discussionmentioning

confidence: 96%

Analysis of the Association of Nonsynonymous Polymorphisms in ADH Genes with Hazardous Drinking in HIV‐1‐Positive Individuals

Wolf

Simon

Béria

et al. 2017

Alcoholism Clin & Exp Res

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“…The expression of these genes varies within the population. Given the practice of miscegenation in Brazil, this country is ideal for the analysis of the incidence of these polymorphisms (Rebello et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

Allelic variations in alcohol metabolism genes (ADH1B, ADH1C, CYP2E1) and alcohol use disorder (AUD) in northeastern Brazil

Melo¹,

Rocha

Carvalho

et al. 2022

RSD

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Alcohol use disorder (AUD) is a multifactorial disease caused by environmental and genetic factors. Genetic polymorphisms of the enzymes involved in alcohol metabolism influence the susceptibility to alcohol dependence. The distribution of the genetic variants varies depending on ethnicity. The aim of this study was to evaluate the effects of the polymorphisms of the three genes responsible for the degradation of ethanol, ADH1B, ADH1C, and CYP2E1 to examine the influence of these mutations on the risk for alcohol use disorder in a population from northeastern Brazil. In addition, the allelic distribution of the northeastern population will be compared with that obtained for other populations. The allelic and genotypic frequencies were determined in 163 alcoholic patients and 182 control subjects. Genotyping was performed by PCR-RFLP. The allele frequencies in the northeastern population were similar to those reported in studies in Mexico but differed significantly from those reported in studies of a Chinese population. The polymorphic variants of CYP2E1 were associated with a higher risk for alcohol use disorder [odds ratio (OR) = 2.80; 95% confidence interval (CI) = 1.35-5.83, p = 0.0072]. No significant result was obtained from the analyses of the ADH1C gene. A significant protective effect against alcohol dependence was observed in individuals carrying allelic and genotypic variations of the ADH1B gene, as determined through the combined analysis of homozygous and heterozygous variant forms of the gene in controls and alcoholics (P = 0.03). Furthermore, the combination of ADH1B*2 with ADH1C*1 and CYP2E1 (c1/c1) may confer protection against alcohol use disorder.

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Association study of the Ile349val polymorphism of the gene ADH1C and alcohol dependence

Cited by 3 publications

References 16 publications

First description and evaluation of SNPs in the ADH and ALDH genes in a population of alcoholics in Central-West Brazil

First description and evaluation of SNPs in the ADH and ALDH genes in a population of alcoholics in Central-West Brazil

Analysis of the Association of Nonsynonymous Polymorphisms in ADH Genes with Hazardous Drinking in HIV‐1‐Positive Individuals

Allelic variations in alcohol metabolism genes (ADH1B, ADH1C, CYP2E1) and alcohol use disorder (AUD) in northeastern Brazil

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