“Detección molecular del polimorfismo rs 1229984 presente en el gen alcohol deshidrogenasa 1b y su relación con la predisposición al consumo de alcohol, en individuos controles y alcohólicos de la provincia de Tungurahua.”

Abstract

Alcoholism is a chronic disease characterized by the excessive intake of alcoholic beverages, generating physical, psychological and public health problems. It is known that alcoholism is a complex pathology determined by genetic factors as well as the environment. Statistically significant results were obtained with associations for some of these genetic variants, where the genetic component explains 50% of the variability in the pattern of alcohol consumption. At present, multiple studies have been carried out to relate genetic polymorphisms with the predisposition to alcoholism. These factors include the rs1229984 polymorphism present in the Alcohol Dehydrogenase 1B (ADH1B) gene that codes for the Alcohol Dehydrogenase enzyme which catalyzes the first oxidation step from ethanol to acetaldehyde. In the present investigation, the rs1229984 polymorphism of the ADH1B gene was detected and its relation with the predisposition to alcohol consumption in control and alcoholic individuals of the province of Tungurahua. The population consisted of 50 patients who met the inclusion criteria. From a blood sample, the extraction of the genomic DNA was carried out, and the presence of the rs1229984 polymorphism was determined by means of the following techniques: The Polymerase Chain Reaction technique and restriction analysis (PCR-RFLP) using the enzyme MslI. The obtained results indicate that the frequency of the genotypes G/A was 5.6% (n=1) and the G/G of 94.4% (n=17), in the control group and for the cases the genotype G/A was 3.1% (n=1) and the 96.9% (n=31) for the remaining G/G genotype. It was determined that the rs1229984 polymorphism is not associated with the predisposition to alcohol consumption in the population studied.