Detection of the gln604glu polymorphism in the gene Abcg5 in a group of individuais from the city of São Roque (São Paulo/Brazil) and the correlation with lipid profile parameters
Keywords:
ABCG5/G8, Dyslipidemia, Pharmacogenetics, Hypercholesterolemia, Polymorphism, SitosterolemiaAbstract
The aim of the present work is to study the Gln604Glu polymorphism of the ABCG5 gene and its correlation with the lipid profile in a volunteer population resident in the city of São Roque in the state of São Paulo (2009). For the analysis of the lipid profile and the Gln604G/u polymorphism, we used the techniques of colorimetric analysis, Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP), respectively. The results showed that 45% of the individuais presented with hypercholesterolemia, 31% with hypertriacylglyce rolemia and 11% with hypoalphalipoproteinemia. The analysis of the Gln604Glu polymorphism showed that 55% of the individuais were heterozygous, 37% normal heterozygous and 8% mutant heterozygous. No significant difference was observed between the lipid profiles of the wild homozygous, mutant homozygous and heterozygous, there being no correlation between the lipid profile and polymorphisms. The results suggest that the presence of polymorphism cannot be used as a dyslipidemia biomarker, in the studied population. Broader studies are required that can evaluate the relationship between the genetic profi/e of the individual and the response to the advocated treatment.
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