Prevalence of haemostatic genes’ polymorphisms in men and women with venous thromboembolism in the Czech Republic – a population-based study of cases and controls

Czech version

Authors: Jan Kvasnička ¹; Zuzana Zenáhlíková ²; Renata Cífková ³; Sylvie Šťastná ²; Zuzana Kovářová Kudrnová ²; Radka Brzežková ²; Jaroslava Hájková ²; Petra Bobčíková ²; Alena Syrůčková ²; Petra Linhartová ²; Martin Ševčík ²; Daniela Dušková ⁴; Tomáš Kvasnička ²
Authors‘ workplace: 1. interní klinika – klinika hematologie 1. LF UK a VFN v Praze ¹; Trombotické centrum, Ústav lékařské biochemie a laboratorní diagnostiky 1. LF UK a VFN v Praze ²; Centrum kardiovaskulární prevence 1. LF UK a VFN v Praze ³; Fakultní transfuzní oddělení VFN v Praze ⁴
Published in: Čas. Lék. čes. 2025; 164: 143-149
Category: Original Article

Overview

Our study aimed to determine the prevalence of five polymorphisms of haemostatic genes rs6025 (F5, Leiden), rs1799963 (F2, prothrombin), rs2066865 (FGG), rs2289252 (F11), and rs8176719 (ABO), in 2 cohorts of 924 men and 1,706 women who had venous thromboembolism (VTE), and to compare their occurrence with that in two control groups of healthy individuals (1,516 men and 1,121 women) with no history of VTE in the Czech Republic.

Statistically significant increases in the prevalence of rs6025 (F5), rs1799963 (F2), rs2066865 (FGG), rs2289252 (F11) and rs8176719 (ABO) were found in both groups of men and women compared to controls (all p ˂ 0.0001). Both F5 Leiden variants increase the risk of VTE. In male homozygotes 70.56-fold, in male heterozygotes 5.45-fold; in female homozygotes 18.8-fold and in female heterozygotes 5.58-fold. For rs1799963 (F2), the risk of VTE was statistically significantly increased only in the heterozygous variant (3.86-fold in males and 3.95-fold in females). Mutated homozygotes could not be evaluated due to their rare occurrence in the sample. An increase in the risk of VTE of the rs2066865 (FGG) variants was again observed in males (1.8-fold in homozygotes, 1.17-fold in heterozygotes) and females (1.88-fold in homozygotes, 1.32-fold in heterozygotes). Derived variants of rs2289252 (F11) also increased the risk of VTE (1.8-fold in male homozygotes and 1.5-fold in male heterozygotes;1.73-fold in female homozygotes and 1.35-fold in female heterozygotes). Again, we found a higher risk of VTE in individuals with VTE when mutant variants of rs8176719 (ABO) were present. In male homozygotes, it was 4.03-fold and in heterozygotes 2.38-fold. In homozygous women, it was 3.16-fold and in heterozygotes 2.11-fold.

Conclusions: Our study confirms that in the Czech Republic, in addition to the known thrombophilic mutations rs6025 (F5) and rs1799963 (F2), there is also a higher prevalence of polymorphisms of the haemostatic gene rs2066865 (FGG), rs2289252 (F11) and rs8176719 (ABO) in both sexes, which can therefore be identified as additional independent heritable risk factors for the VTE.

Keywords:

venous thromboembolism, rs6025 (F5), Leiden, rs1799963 (F2), prothrombin, rs2066865 (FGG), rs2289252 (F11), rs8176719 (ABO), Czech Republic, men, women

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