Three polymorphisms in promoter of protein c gene with endothelial protein c receptor gene and risk of venous thrombosis

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F62157124%3A16370%2F13%3A43871808" target="_blank" >RIV/62157124:16370/13:43871808 - isvavai.cz</a>

Výsledek na webu

<a href="http://dx.doi.org/10.1097/MBC.0b013e32836466cb" target="_blank" >http://dx.doi.org/10.1097/MBC.0b013e32836466cb</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1097/MBC.0b013e32836466cb" target="_blank" >10.1097/MBC.0b013e32836466cb</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Three polymorphisms in promoter of protein c gene with endothelial protein c receptor gene and risk of venous thrombosis

Popis výsledku v původním jazyce

The primary abnormalities that are associated with a risk of venous thrombosis are the deficiencies of protein C. Protein C (PROC), encoded by the PROC gene, acts through its affinity for binding to its transmembrane endothelial cell protein C receptor (EPCR) encoded by the EPCR gene. The objective of the study was to analyze the link between three polymorphisms in the promoter of PROC gene, the polymorphism in the EPCR gene and the occurrence of venous thrombosis. We genotyped 135 individuals - 51 cases with documented venous thrombosis and 84 healthy volunteers without a history of venous thrombosis. The occurrence of the TAA haplotype of PROC gene was significantly more frequent in the controls (N=48; 57.1%), compared with the patients (N=18; 35.3%), (P=0.0206). The healthy individuals were also significantly often carriers of the TAA haplotype and the standard genotype AA of EPCR gene (50 vs. 25.5%) than the patients (P=0.0066). The frequency of haplotypes CAA and CGT of PROC gene

Název v anglickém jazyce

Three polymorphisms in promoter of protein c gene with endothelial protein c receptor gene and risk of venous thrombosis

Popis výsledku anglicky

The primary abnormalities that are associated with a risk of venous thrombosis are the deficiencies of protein C. Protein C (PROC), encoded by the PROC gene, acts through its affinity for binding to its transmembrane endothelial cell protein C receptor (EPCR) encoded by the EPCR gene. The objective of the study was to analyze the link between three polymorphisms in the promoter of PROC gene, the polymorphism in the EPCR gene and the occurrence of venous thrombosis. We genotyped 135 individuals - 51 cases with documented venous thrombosis and 84 healthy volunteers without a history of venous thrombosis. The occurrence of the TAA haplotype of PROC gene was significantly more frequent in the controls (N=48; 57.1%), compared with the patients (N=18; 35.3%), (P=0.0206). The healthy individuals were also significantly often carriers of the TAA haplotype and the standard genotype AA of EPCR gene (50 vs. 25.5%) than the patients (P=0.0066). The frequency of haplotypes CAA and CGT of PROC gene

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2013

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Blood coagulation & fibrinolysis

ISSN

0957-5235

e-ISSN

—

Svazek periodika

24

Číslo periodika v rámci svazku

8

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

4

Strana od-do

814-817

Kód UT WoS článku

000326815600004

EID výsledku v databázi Scopus

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