Genética hereditária: pesquisas atuais

Abstrato

The Frequencies of Ten Platelet Polymorphisms Associated with Atherosclerotic Cardiovascular Disease in Patients with Venous Thromboembolism: A Population-Based Case-Control Study

Kvasnicka T, Bobcikova P, Malikova I, Hajkova J, Zima T, Ulrych J, Briza J, Brzezkova R, Duskova D, Poletinova S, Kieferova V and Kvasnicka J

Background: At present, atherosclerotic CardioVascular Disease (CVD) and the Vein ThromboEmbolism (VTE) are considered to have many common risk factors. The aim of our study was to determine the frequencies of ten platelet gene polymorphisms that were associated with atherosclerotic CVD in subjects (n=2369) with VTE in comparison with their frequencies in a control group (n=1460) of healthy persons. Methods: The polymorphisms of platelet receptors P2Y12 (rs2046934, rs6785930), GPIa (rs1126643), GP IIIa (rs5918), GP VI (rs1613662) and PAR-1(rs168753) and the variations in the genes coding for cyclooxygenase 1 (COX- 1; rs10306114) and platelet endothelial aggregation receptor 1 (PEAR1; (rs41299597, rs11264579, rs2768759) were determined. Results: The examinations did not show any significant differences between the polymorphism frequencies in subjects with VTE in comparison to the results obtained in control group of healthy persons. Only in the subgroup of VTE patients (n 732) with a family history of myocardial infarct and/or stroke were weakly significant increases in the “risk” genotype frequencies in GP Ia (rs1126643) and in PEAR1 (rs 11264579) (both p=0.04) observed, but no significant differences were noted in the allele frequencies. Conclusions: We suggest that the observed platelet gene polymorphisms play no significant role as independent hereditary risk factors in the pathogenesis of VTE.