Frequency of thrombophilia associated genes variants: population-based study
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(2020) 21:198
RESEARCH ARTICLE
Open Access
Frequency of thrombophilia associated genes variants: population-based study Natalia Wawrusiewicz-Kurylonek1,2,3* , Adam Jacek Krętowski1 and Renata Posmyk2,3
Abstract Background: Thrombophilia is a hypercoagulable state that may have a genetic basis (inherited) or can be acquired. It is a multifactorial condition and only the mutual interactions between the environment and genes may lead to the development of clinical manifestation. This state is the main factor promoting venous (rarely arterial) thromboembolism (VTE). Inherited thrombophilia is mainly associated with two pathogenic variants in the V coagulation factor (FV) and the prothrombin (FII) genes. The aim of our study was to evaluate the frequency of two pathogenic variants in FII and FV genes as inherited thrombophilia factors in a group within the Polish population in comparison with other described populations. Methods: All studied groups consisted of 633 unrelated patients aged between 18 and 70. Individuals in the research group come from the Podlasie region of Poland. Genotyping of FII and FV variants was performed using the 7900HT Fast Real-Time PCR System and were genotyped by TaqMan assay. Results: The pathogenic allele frequency for A allele was 0.03 (3%) and 0.07 (7%) for FII and FV genes, respectively. The GA/AA genotypes (c.*97G > A variant) were observed in only 33 (5.03%) individuals in the studied group. Additionally, the frequency of GA/AA genotypes was over 17.4% in the coagulation factor V. Co-incidence of heterozygous genotype GA of variants FII and FV genes was observed in only 4 subjects. Conclusion: The FII gene variant shown in our study is less frequent than in other European countries (about 6%). In contrast, the A allele of the FV gene occurs with a frequency similar to that of Northern, Central and South Central Europe (about 5%).
Background Thrombophilia can be defined as a predisposition to form clots inappropriately and may be inherited or acquired [1, 2] and this is the main factor promoting venous (rarely arterial) thromboembolism (VTE). VTE is a disorder of great importance to the health of general population; it has an incidence of 1 in 1000 persons per/ year [3]. The main clinical manifestation of VTE is a deep vein thrombosis (DVT; usually occurring in the legs) and pulmonary embolism (PE) which are responsible for * Correspondence: [email protected] 1 Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Bialystok, ul. M. Curie-Skłodowskiej 24A, 15-276 Białystok, Poland 2 Podlaskie Center of Clinical Genetics “Genetics”, Bialystok, Poland Full list of author information is available at the end of the article
substantial morbidity and mortality. According to data published in 2007, approximately 400,000 deaths per year in the European Union are a consequence of deep vein thrombosis [4]. In Poland, PE is responsible for about 30, 000 deaths per year [5]. VTE is not only a risk factor for mortality (strokes, heart attacks), but it
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