Cor Vasa 2009, 51(3):187-193 | DOI: 10.33678/cor.2009.044

Platelet gene polymorphisms related to atherothrombogenesis and their frequencies in the healthy middle-aged Czech population

Jan Kvasnička^1,*, Jaroslava Hájková¹, Petra Bobčíková¹, Daniela Dušková², Šárka Poletínová², Veronika Kieferová², Zuzana Zenáhlíková¹, Ladislav Pecen¹

¹ Trombotické centrum

² Fakultní transfuzní oddělení, Všeobecná fakultní nemocnice a 1. lékařská fakulta Univerzity Karlovy, Praha, Česká republika

Aim: The aim of our study was to assess the frequencies of platelet gene polymorphisms associated with atherothrombogenesis in the healthy middle-aged Czech population.

Methods: Anonymous testing of 1,450 blood donor DNA by PCR followed by melting curve analysis using a LightCycler 480 analyzer (ROCHE) were used to determine the frequencies of GP IIIa (HPA-1; rs5918), P2Y12 (H1/H2 haplotyp; rs2046934), P2Y12 (34C > T; rs6785930), COX-1 (-842A > G; rs10306114), PAR-1 (IVS -14A > T; rs168753), GP VI (13254T > C; rs1613662) and GP Ia (807C > T; rs1126643) polymorphisms.

Results: The frequencies of GP IIIa (HPA-1) were: 27.38% of heterozygotes, 3.66% of homozygotes, and 68.97% of "wild type" homozygotes; frequencies of P2Y12 (H1/H2 haplotype) were: 25.93% of heterozygotes, 2.62% of homozygotes, and 71.45% of "wild type" homozygotes; frequencies of P2Y12 (34C > T) were: 44.03% of heterozygotes, 9.69% of homozygotes and 46.28% of "wild type" homozygotes; frequencies of COX-1 (-842A > G) were: 12.00% of heterozygotes, 0.41% of homozygotes, and 87.59% of "wild type" homozygotes; frequencies of PAR-1 (IVS -14A > T) were: 28.55% of heterozygotes, 4.41% of homozygotes, and 67.03% of "wild type" homozygotes, frequencies of GP VI (13254T > C) were: 21.45% of heterozygotes, 1.79% of homozygotes, and 76.76% of "wild type" homozygotes; frequencies of GP Ia (807C > T) were: 47.27% of heterozygotes, 16.70% of homozygotes, and 36.02% of "wild type" homozygotes in the tested group of healthy persons.

Conclusion: The frequencies of tested platelets gene polymorphisms implicated in influencing susceptibility to atherothrombogenesis, or to failure of antiplatelet therapy, were 10-40% in the healthy middle-aged Czech population.

Keywords: GP IIIa (HPA-1; rs5918); P2Y12 (H1, H2 haplotype; rs2046934); P2Y12 (34C > T; rs6785930); COX-1 (-842A > G; rs10306114); PAR-1 (IVS -14A > T; rs168753); GP VI (13254T > C; rs1613662); GP Ia (807C > T; rs1126643); Frequencies in healthy Czech population

Published: March 1, 2009  Show citation