Allelic variations in alcohol metabolism genes (ADH1B, ADH1C, CYP2E1) and alcohol use disorder (AUD) in northeastern Brazil
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Research, Society and Development |
Texto Completo: | https://rsdjournal.org/index.php/rsd/article/view/35486 |
Resumo: | 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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Allelic variations in alcohol metabolism genes (ADH1B, ADH1C, CYP2E1) and alcohol use disorder (AUD) in northeastern BrazilVariaciones alélicas en los genes del metabolismo del alcohol (ADH1B, ADH1C, CYP2E1) y trastorno por consumo de alcohol en el noreste de BrasilVariações alélicas em genes do metabolismo do álcool (ADH1B, ADH1C, CYP2E1) e transtorno por uso de álcool (TUA) no nordeste do BrasilPolimorfismos genéticosTranstorno por uso de álcool (TUA)Álcool desidrogenaseCYP2E1Suscetibilidade genética.Alcohol use disorder (AUD)Genetic polymorphismsAlcohol dehydrogenaseCYP2E1Genetic susceptibility.Polimorfismos genéticosTrastorno por consumo de alcoholAlcohol deshidrogenasaCYP2E1Predisposición genética.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.El trastorno por consumo de alcohol es una enfermedad multifactorial causada por factores ambientales y genéticos. Los polimorfismos genéticos de las enzimas involucradas en el metabolismo del alcohol influyen en la susceptibilidad a la dependencia del alcohol. La distribución de las variantes genéticas varía según la etnia. El objetivo de este estudio fue evaluar los efectos de los polimorfismos de los tres genes responsables de la degradación del etanol, ADH1B, ADH1C y CYP2E1 para examinar la influencia de estas mutaciones en el riesgo de alcoholismo en una población del noreste de Brasil. Además, se comparará la distribución alélica de la población nororiental con la obtenida para otras poblaciones. Las frecuencias alélicas y genotípicas se determinaron en 163 pacientes alcohólicos y 182 sujetos control. El genotipado se realizó por PCR-RFLP. Las frecuencias alélicas en la población del noreste fueron similares a las reportadas en estudios en México pero difirieron significativamente de las reportadas en estudios de una población china. Las variantes polimórficas de CYP2E1 se asociaron con un mayor riesgo de trastorno por consumo de alcohol [odds ratio (OR) = 2,80; Intervalo de confianza (IC) del 95% = 1,35-5,83, P = 0,0072]. No se obtuvo ningún resultado significativo de los análisis del gen ADH1C. Se observó un efecto protector significativo contra la dependencia del alcohol en individuos portadores de variaciones alélicas y genotípicas del gen ADH1B, según se determinó a través del análisis combinado de formas variantes homocigóticas y heterocigóticas del gen en controles y alcohólicos (P = 0,03). Además, la combinación de ADH1B*2 con ADH1C*1 y CYP2E1 (c1/c1) puede conferir protección contra el trastorno por consumo de alcohol.O transtorno por uso de álcool (TUA) é uma doença multifatorial causada por fatores ambientais e genéticos. Polimorfismos genéticos das enzimas envolvidas no metabolismo do álcool influenciam a suscetibilidade à dependência do álcool. A distribuição das variantes genéticas varia dependendo da etnia. O objetivo deste estudo foi avaliar os efeitos dos polimorfismos dos três genes responsáveis pela degradação do etanol, ADH1B, ADH1C e CYP2E1 para examinar a influência dessas mutações no risco de alcoolismo em uma população do nordeste do Brasil. Além disso, a distribuição alélica da população nordestina será comparada com a obtida para outras populações. As frequências alélicas e genotípicas foram determinadas em 163 pacientes alcoolistas e 182 controles. A genotipagem foi realizada por PCR-RFLP. As frequências alélicas na população do nordeste foram semelhantes às relatadas em estudos no México, mas diferiram significativamente daquelas relatadas em estudos de uma população chinesa. As variantes polimórficas de CYP2E1 foram associadas a um maior risco de alcoolismo [odds ratio (OR) = 2,80; intervalo de confiança de 95% (CI) = 1,35-5,83, P = 0,0072]. Nenhum resultado significativo foi obtido das análises do gene ADH1C. Um efeito protetor significativo contra a dependência de álcool foi observado em indivíduos portadores de variações alélicas e genotípicas do gene ADH1B, determinado através da análise combinada de formas variantes homozigóticas e heterozigotas do gene em controles e alcoolistas (P = 0,03). Além disso, a combinação de ADH1B*2 com ADH1C*1 e CYP2E1 (c1/c1) pode conferir proteção contra o transtorno por uso de álcool.Research, Society and Development2022-10-13info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://rsdjournal.org/index.php/rsd/article/view/3548610.33448/rsd-v11i13.35486Research, Society and Development; Vol. 11 No. 13; e477111335486Research, Society and Development; Vol. 11 Núm. 13; e477111335486Research, Society and Development; v. 11 n. 13; e4771113354862525-3409reponame:Research, Society and Developmentinstname:Universidade Federal de Itajubá (UNIFEI)instacron:UNIFEIenghttps://rsdjournal.org/index.php/rsd/article/view/35486/29911Copyright (c) 2022 Anne Jurkiewicz Melo; Jefferson Almeida Rocha; Mônika Machado de Carvalho; France Keiko Yoshioka; Giovanny Rebouças Pinto; Fábio José Nascimento Motta; Renata Canallehttps://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessMelo, Anne Jurkiewicz Rocha, Jefferson Almeida Carvalho, Mônika Machado de Yoshioka, France Keiko Pinto, Giovanny Rebouças Motta, Fábio José Nascimento Canalle, Renata2022-10-17T13:43:46Zoai:ojs.pkp.sfu.ca:article/35486Revistahttps://rsdjournal.org/index.php/rsd/indexPUBhttps://rsdjournal.org/index.php/rsd/oairsd.articles@gmail.com2525-34092525-3409opendoar:2024-01-17T09:50:23.505984Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)false |
dc.title.none.fl_str_mv |
Allelic variations in alcohol metabolism genes (ADH1B, ADH1C, CYP2E1) and alcohol use disorder (AUD) in northeastern Brazil Variaciones alélicas en los genes del metabolismo del alcohol (ADH1B, ADH1C, CYP2E1) y trastorno por consumo de alcohol en el noreste de Brasil Variações alélicas em genes do metabolismo do álcool (ADH1B, ADH1C, CYP2E1) e transtorno por uso de álcool (TUA) no nordeste do Brasil |
title |
Allelic variations in alcohol metabolism genes (ADH1B, ADH1C, CYP2E1) and alcohol use disorder (AUD) in northeastern Brazil |
spellingShingle |
Allelic variations in alcohol metabolism genes (ADH1B, ADH1C, CYP2E1) and alcohol use disorder (AUD) in northeastern Brazil Melo, Anne Jurkiewicz Polimorfismos genéticos Transtorno por uso de álcool (TUA) Álcool desidrogenase CYP2E1 Suscetibilidade genética. Alcohol use disorder (AUD) Genetic polymorphisms Alcohol dehydrogenase CYP2E1 Genetic susceptibility. Polimorfismos genéticos Trastorno por consumo de alcohol Alcohol deshidrogenasa CYP2E1 Predisposición genética. |
title_short |
Allelic variations in alcohol metabolism genes (ADH1B, ADH1C, CYP2E1) and alcohol use disorder (AUD) in northeastern Brazil |
title_full |
Allelic variations in alcohol metabolism genes (ADH1B, ADH1C, CYP2E1) and alcohol use disorder (AUD) in northeastern Brazil |
title_fullStr |
Allelic variations in alcohol metabolism genes (ADH1B, ADH1C, CYP2E1) and alcohol use disorder (AUD) in northeastern Brazil |
title_full_unstemmed |
Allelic variations in alcohol metabolism genes (ADH1B, ADH1C, CYP2E1) and alcohol use disorder (AUD) in northeastern Brazil |
title_sort |
Allelic variations in alcohol metabolism genes (ADH1B, ADH1C, CYP2E1) and alcohol use disorder (AUD) in northeastern Brazil |
author |
Melo, Anne Jurkiewicz |
author_facet |
Melo, Anne Jurkiewicz Rocha, Jefferson Almeida Carvalho, Mônika Machado de Yoshioka, France Keiko Pinto, Giovanny Rebouças Motta, Fábio José Nascimento Canalle, Renata |
author_role |
author |
author2 |
Rocha, Jefferson Almeida Carvalho, Mônika Machado de Yoshioka, France Keiko Pinto, Giovanny Rebouças Motta, Fábio José Nascimento Canalle, Renata |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Melo, Anne Jurkiewicz Rocha, Jefferson Almeida Carvalho, Mônika Machado de Yoshioka, France Keiko Pinto, Giovanny Rebouças Motta, Fábio José Nascimento Canalle, Renata |
dc.subject.por.fl_str_mv |
Polimorfismos genéticos Transtorno por uso de álcool (TUA) Álcool desidrogenase CYP2E1 Suscetibilidade genética. Alcohol use disorder (AUD) Genetic polymorphisms Alcohol dehydrogenase CYP2E1 Genetic susceptibility. Polimorfismos genéticos Trastorno por consumo de alcohol Alcohol deshidrogenasa CYP2E1 Predisposición genética. |
topic |
Polimorfismos genéticos Transtorno por uso de álcool (TUA) Álcool desidrogenase CYP2E1 Suscetibilidade genética. Alcohol use disorder (AUD) Genetic polymorphisms Alcohol dehydrogenase CYP2E1 Genetic susceptibility. Polimorfismos genéticos Trastorno por consumo de alcohol Alcohol deshidrogenasa CYP2E1 Predisposición genética. |
description |
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. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-10-13 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://rsdjournal.org/index.php/rsd/article/view/35486 10.33448/rsd-v11i13.35486 |
url |
https://rsdjournal.org/index.php/rsd/article/view/35486 |
identifier_str_mv |
10.33448/rsd-v11i13.35486 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://rsdjournal.org/index.php/rsd/article/view/35486/29911 |
dc.rights.driver.fl_str_mv |
https://creativecommons.org/licenses/by/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Research, Society and Development |
publisher.none.fl_str_mv |
Research, Society and Development |
dc.source.none.fl_str_mv |
Research, Society and Development; Vol. 11 No. 13; e477111335486 Research, Society and Development; Vol. 11 Núm. 13; e477111335486 Research, Society and Development; v. 11 n. 13; e477111335486 2525-3409 reponame:Research, Society and Development instname:Universidade Federal de Itajubá (UNIFEI) instacron:UNIFEI |
instname_str |
Universidade Federal de Itajubá (UNIFEI) |
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UNIFEI |
institution |
UNIFEI |
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Research, Society and Development |
collection |
Research, Society and Development |
repository.name.fl_str_mv |
Research, Society and Development - Universidade Federal de Itajubá (UNIFEI) |
repository.mail.fl_str_mv |
rsd.articles@gmail.com |
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1797052725064630272 |