Factor XIII (FXIII) plays an important role in formation and stabilization of the fibrin clot. It is known that FXIII-A gene G163T (Val34Leu) polymorphism leads to increased activation of this factor, however participation of the 34Leu variant in thrombogenesis remains disputable. The present work was aimed at studying peculiarities of distribution of variants of FXIII-A polymorphisms in patients with early onset of venous thromboembolism (VTE), as well as revealing associative links between the carrier state of this mutation and the character of clinical course of the disease. We examined a total of 250 patients with VTE. Of these, there were 119 (47.6%) men and 131 (52.4%) women, mean age 37.42 years (range 10-45 years). In the group of patients with VTE, the proportion of homozygous carriers of allele 163T (Leu34) turned out to be more than 1.5-fold higher as compared with the corresponding parameter in the control group (OR=1.8, 95% CI: 0.9-4.0; p=0.14). Analysing FXIII-A G163T polymorphism depending on gender revealed a considerable increase in the incidence rate (IR) of 163TT genotype in women with VTE as compared to male patients (13.0% versus 5.1 %, respectively, OR=2.8, 95% CI: 1.1-7.4; p=0.047) and to the control group (OR=2.7; 95% CI: 1.2-6.1; p=0.023). Analysing gene FXIII-A polymorphism in the groups of patients with various clinical manifestations of VTE revealed a decrease in the proportion of heterozygotes in the group of deep vein thrombosis + pulmonary artery thromboembolism (PATE) and, vice versa, an increase in the proportion of homozygotes by the Leu34 variant in patients with signs of PATE. The obtained findings make it possible to consider the genotype 163TT of FXIII-A gene as a new independent risk factor for the development of VTE in young women living in the North-West region of Russia, which is observed for the first time. Additional studies are necessary.
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BMC Res Notes
March 2024
Department of Medical Laboratory, College of Applied Medical Science , Prince Sattam Bin Abdulaziz University, 11942, Alkharj, Saudi Arabia.
Life (Basel)
November 2023
Department of Urology and General Medicine, Faculty of Medicine, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria.
The coronavirus disease (COVID-19) is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The most common symptoms of COVID-19 are respiratory symptoms, but some patients develop severe thrombotic complications. Studies have looked into the association between the disease severity in COVID-19 patients and polymorphisms in the genes encoding prothrombotic and cardiovascular risk factors.
View Article and Find Full Text PDFBackground: Blood coagulation disorders are one of the causes of mortality. Therefore, the study of coagulation disorders is also important. This systematic review was conducted to investigate blood coagulation disorders in the Iranian population.
View Article and Find Full Text PDFThromb J
July 2023
Department of Internal Medicine, Faculty of Medicine, Jagiellonian University Medical College, Jakubowskiego 2, Krakow, 30-688, Poland.
Introduction: Central retinal artery occlusion (CRAO) is a common cause of blindness and visual morbidity. In the majority of cases, it is related to thrombotic embolism. Nevertheless, the role of inherited or acquired thrombophilic risk factors in CRAO pathogenesis has not been comprehensively studied.
View Article and Find Full Text PDFPediatr Neurol
September 2023
University of Applied Health Sciences Zagreb, Zagreb, Croatia; Department of Neuropediatrics, Children's Hospital Zagreb, Zagreb, Croatia; Faculty of Medicine of the University of Rijeka, Rijeka, Croatia.
Background: We aimed to examine inherited thrombophilia frequencies by extending genetic profile to previously rarely or not investigated polymorphisms in children with ischemic pediatric stroke (IPS) and their parents.
Methods: The study included 33 children: 23 with perinatal arterial ischemic stroke (PAIS), eight with childhood arterial ischemic stroke (CAIS), and two with sinovenous thrombosis and their parents (33 mother-child, 12 father-child, and 12 mother-father-child pairs). Genotyping of FV-Leiden, FV-H1299R, FII-G20210A, β-fibrinogen-455G>A, FXIII-A-Val34Leu, PAI-1(4G/5G), HPA-1, MTHFR-C677T, MTHFR-A1298C, ACE(I/D), and APOE(ε2-4) was performed using CVD Strip assay (ViennaLab, Austria).
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