Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/1121
Título: The role of ADH1B in alcohol consumption and stroke susceptibility
Autor: Paulos-Pinheiro, S.
Coelho, J.I.
Albergaria, I.
Gaspar, G.
Ferro, J.M.
Vicente, A.M.
Palavras-chave: Doenças Cardio e Cérebro-vasculares
Data: Nov-2012
Editora: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Resumo: While heavy episodic drinking has been shown to be harmful to the heart, moderate alcohol consumption is thought to be protective against cardiovascular disease, through the regulation of rising HDL cholesterol levels. The cardio-protective effect of alcohol is now not thought to vary by beverage type. In fact, evidence for an additional cardio-protective effect of antioxidant polyphenols in red wine is weak. The study of genetics variants of the alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH) genes involved in alcohol metabolism is important to understand the patterns of drinking habits and its effects in stroke susceptibility. The enzyme alcohol dehydrogenase (ADH), which oxidizes alcohol to acetaldehyde, has proven to play an important role in alcohol metabolism. Seven genes encoding ADH are found in a tight cluster on chromosome 4 and some are polymorphic in white European populations. More active variants of ADH cause higher concentrations of acetaldehyde in the body following alcohol consumption and are therefore protective against drinking. Functional variants in both ADH1B and ADH1C have been associated with alcohol consumption or alcohol dependence. The ADH1B variant (rs1229984) has emerged as the most strongly associated with alcohol phenotypes and is therefore the most suitable instrument for Mendelian randomization studies in Europeans. The A allele has an allele frequency of approximately 2-5% in Europeans and plays a protective role against heavy drinking because it confers an higher alcohol metabolic rate and consequent accumulation of toxic acetaldehyde.
Descrição: This work was part of a collaboration between Grupo de Neurogenética e Saúde Mental, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, INSA, Lisboa, and Genetic Epidemiology Group, Department of Epidemiology and Public Health, University College of London, London. Samples collection was supported by fellowship PECS/T/SAU/179/95, from Fundação para a Ciência e a Tecnologia (FCT; Portugal).
URI: http://hdl.handle.net/10400.18/1121
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