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• W2015688462 abstract "Analizar las frecuencias de mutaciones genéticas en alcohol deshidrogenasa (ADH), aldehído deshidrogenasa (ALDH) y citocromo P450 2E1 (CYP2E1) y establecer su posible asociación con el desarrollo de hepatitis alcohólica aguda (HAA). Estudio de casos-control en un total de 85 pacientes españoles. Distinguimos tres grupos (un grupo de casos y dos grupos control) en función de lesión histológica hepática y consumo de alcohol: controles (grupo 1: abstemios; grupos 2: bebedores sin HAA; casos: grupo 3: bebedores con HAA). El diagnóstico de caso se estableció en base a la presencia de infiltrado de leucocitos polimorfonucleares en el estudio histológico. Analizamos mediante reacción en cadena de la polimerasa (PCR) y electroforesis capilar la presencia de las mutaciones genéticas R47H y R369C (ADH2), E487K (ALDH2) y la mutación Rsa I de CYP2E1 (alelo c2). El alelo c2 de CYP2E1 se halló en el 10%, 16% y 50% de los pacientes de los grupos 1, 2 y 3, respectivamente. La presencia de la mutación Rsa I mostró influencia sobre el desarrollo de HAA (odds ratio [OR]: 3,63; intervalo de confianza [IC] del 95%: 0,88-15,02). Los datos sugieren una posible asociación entre la presencia de la mutación Rsa I de CYP2E1 y el desarrollo de HAA en pacientes con consumo crónico de alcohol. Analyze the frequencies of genetic mutation in alcohol dehydrogenase (ADH), aldehyde dehydrogenase (ALDH) and cytochrome P450 2E1 (CYP2E1) and establish their possible association with the development of acute alcoholic hepatitis (AAH). Case-control study in a total of 85 Spanish patients. We distinguis three groups (one case group and two control groups) based on hepatic histological lesion and alcohol consumption: controls (group 1: teetolaers; group 2: drinkers without AAH; cases: group 3: drinkers with AAH). Case diagnosis was established based on the presence of polymorphonuclear leukocyte infiltrate in histological study. We analyzed the presence of the genetic mutations R47H and R369C (ADH2), E487K (ALDH2) and mutation Rsa I of CYP2E1 (allele c2) by polymerase chain reaction (PCR) and capillary electrophoresis. The allele c2 of CYP2E1 was found in 10%, 16% and 50% of the groups 1, 2 and 3 patients, respectively. Presence of the mutation Rsa I showed influence on the development of AAH (odds ratio [OR]: 3,63; confidence interval (95% [CI]: 0,88-15,02). The data suggest a posibble association between the presence of the Rsa I of CYP2E1 and the development of AAH in patients with chronic alcohol consumption." @default.
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• W2015688462 date "2005-11-01" @default.
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• W2015688462 title "Susceptibilidad genética al desarrollo de hepatitis alcohólica aguda: papel de las mutaciones genéticas en alcohol deshidrogenasa, aldehído deshidrogenasa y citocromo P450 2E1" @default.
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• W2015688462 doi "https://doi.org/10.1016/s0014-2565(05)72632-1" @default.
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