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A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain
Authors:David Celorrio  Luis Bujanda  Carlos Caso  Miguel Landabaso  Juan Carlos Oria  Javier Ogando  Marian M de Pancorbo
Institution:1. BIOMICs Research Group, CIBERehd, University of Basque Country UPV/EHU, Spain;2. Servicio de Digestivo, CIBERehd, Universidad del País Vasco UPV/EHU, San Sebastián, Spain;3. Servicio de Alcoholismo y Ludopatías de Álava, Salud Mental de Álava (Osakidetza), Vitoria, Spain;4. Unidad de Toxicomanias del Centro de Salud Mental Uribe Getxo, Bizkaia, Spain;5. Hospital de día de drogodependencias “ZURIA” del Servicio Navarro de Salud Osasunbidea, Asociación ACOAD Servicios Asistenciales, Spain;6. Jefe de Unidad de Salud Mental, Red de Salud Mental Bizkaia – Osakidetza, Spain;g BIOMICs Research Group, DNA Bank, University of Basque Country UPV/EHU, Spain
Abstract:The aim of this paper is to study polymorphism in the TH, ADH1B, ADH1C, ALDH2 and CYP2E1 genes so as to ascertain whether it is associated with excessive consumption of alcohol. The SNPs rs6356 of TH, rs1229984, rs2066702 of ADH1B; rs698, rs1693482 of ADH1C; rs671 of ALDH2; rs72559710, rs55897648, rs6413419, rs3813867, rs2031920, rs6413432 of CYP2E1 were studied in a sample of 172 high-level patients and 150 fully non-drinkers controls. Genotyping was performed using Rt-PCR with Taqman probes. SNPs located at ALDH2 and CYP2E1 showed no heterozygosity. Frequency distribution showed significant differences between the two groups studied for loci TH and ADH1B. The genotype Val/Val of TH locus increased in risk 1.988 times (95% CI: 1.006–3.930) that the subjects carrying the genotype Met/Met; and the genotype ADH1B*1/*1 of ADH1B locus increased in risk 3.811 times (CI: 1.660–8.749) that the subjects carrying the genotype ADH1B*1/*2. Alleles Val and ADH1B*1 may therefore increase the risk of the onset and development of this illness.
Keywords:TH  ADH1B  ADH1C  ALDH2  CYP2E1  Alcohol  Alcoholism  Basque Country  Genetic  Polymorphism  Risk factor  SNP
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