Frequency of genetig polymorphisms von Willebrand factor (T2385C), syntaxin binding protein (ASN436SER), syntaxin (G787A) and their impact on activity of von Willebrand factor and factor VIII in healthy women in SAINT-PETERSBURG
1North-Western State Medical University named after I.I. Mechnikov, St.Petersburg, Russia, e-mail: Andrei.Koloskov@szgmu.ru
2City Hospital № 26, St.Petersburg, Russia, e-mail: firstname.lastname@example.org
3 «MedLabSPb» Ltd., St.Petersburg, Russia, e-mail: email@example.com
The research of frequency genetic polymorphisms von Willebrand factor (VWF), syntaxin binding protein (STXBP5) and syntaxin (STX2) in a population of Saint-Petersburg residents, Caucasian. We have investigated correlation between polymorphisms of these genes and the activity levels of von Willebrand factor (VWF) and factor VIII (FVIII). T2385T VWF polymorphism occurs with a frequency of 19%, the frequency of C2385C and T2385C polymorphism was 44% and 37%, respectively. Asn436Asn STXBP5 met in the study population with a frequency of 28%, and polymorphisms Asn436Ser and Ser436Ser with a frequency of 51% and 21%, respectively. The frequency of polymorphism G787G STX2 - 46%, respectively polymorphisms G787A and A787A occurred at a frequency of 34% and 20%. Mid VWF activity in individuals and carriers of polymorphism T2385C and C2385C VWF gene was significantly lower compared with that of those carriers of polymorphism T2385T VWF. In the analysis of the level of activity of VWF, depending on the genetic variations in genes STXBP5 and STX2 and no significant differences were found. The average level of activity of VWF in patients with heterozygous combination of alleles (Asn436Ser and A787G), was significantly lower compared to the same period in patients with homozygous combination of alleles (Ser436Ser and A787A). With all the identified correlation relationships decline in the average level of VWF activity was accompanied by a decrease in the average level of activity of FVIII.
von Willebrand factor gene, STXBP5 gene, STX2 gene, von Willebrand factor, factor VIII, population-based study