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Projects & Grants
|Risk assessment of thrombophilic mutations in young women (pilot study)|
|Main solver||Mgr. Petra Riedlová|
|Periodr||1/2020 - 12/2021|
|Provider||Specifický VŠ výzkum|
|Anotation||Almost 10 % of women in the Czech Republic have been diagnosed serious disorder of blood coagulation and therefore every tenth woman is risking trombhosis along with use hormonal contraceptive (HC). Mortality is around 500,000 people per years in Europe.
Venous trombembolic disease (TEN) is an expanded serious disease in which genetic factors play an important role. Two thrombophilic mutations- factor V Leiden and factor II prothrombin, involved in the blood coagulation process are examined. The 5-10 % of people with FV Leiden mutations and 1-2 % of people with FII prothrombin mutations are in the Czech population. Finding a given sequence variant increases the risk of clotting and vascular blocking many times, which in combination with HC and smoking further multiplies. This may result in an increased risk of stroke, myocardial infarction, pregnancy problems, thrombosis or embolism at an young age.
Young women are among the risk group. However, genetic testing is performed only in the case of a positive family history, an idiopathic TEN and repeated abortions. Knowing the genetic predisposition to blood coagulating can help both in the reproductive period of a woman's life, during various operations, long-term immobilization and treatment of chronic diseases.
With improving of laboratory screening methods of DNA analysis (in this study using digital PCR technique), it would be possible to improve TEN prevention by introducing an available screening test to highlight a significantly increased risk of this disease.
The outcome of the study will be an evaluation of the frequency of occurrence of all risk factors in young women, or an association between the established family history of TEN and the presence of thrombophilic mutations. The results of the study would be provided to the study participants with an explanation of importance.