Determination of Genetic Polymorphism Taqia (Ankk1) Taqib (Drd2), -141c Ins or Del (Drd2) And 40 Bp Vntr (Slc6a3) in the Colombian Population and Evaluation of their Associations with Alcoholism - Abstract
Background: In the study of a multi factorial disease like alcoholism genetic component it is important because it can represent up to 50% of the influence, and there are significant ethnic differences among populations. This work is the first of its type for the Colombian population and aimed to analyze polymorphisms of the ANKK1 (TaqIA), DRD2 (TaqI B and -141C Ins/Del) and SLC6A3 (VNTR 40 bp) genes in a Colombian alcohol-dependent individuals to determine their associations with alcoholism.
Methods: Genotypes of these polymorphisms were determined by conventional PCR and PCR-RFLP in a population of 214 individuals with nonproblematic alcohol use and individuals with problematic alcohol use. The DNA was obtained from peripheral white blood cells.
Results: Several hypotheses have suggested that people with problem drinking have decreased density and presynaptic dopamine reuptake problems due to disturbances caused by polymorphisms associated with the ANKK1, DRD2 and SLC6A3 genes. The gene and allelic frequencies of 214 individuals showed significant differences for allele - 141C Ins in individuals who had an AUDIT score of 14 to 19 and for the Taq IB allele in women with problematic alcohol consumption. A meta-analysis was done for association of polymorphism of DRD2 gene Taq1A with alcoholism. The results of this meta-analysis may add to the long list of studies that have yielded A1 allele association with alcoholism.
Conclusion: In the present study no association was found between polymorphism of DRD2 gene Taq1A with alcoholism in this Colombian population. It is also suggested that the Ins -141C allele was a critical factor in the harm phase of dependent alcohol consumption. Similarly, a significant difference for the allele IB TaqIB DRD2 gene polymorphism in the group of women with alcohol dependence was found.