The frequencies of six important thrombophilic mutations in a population of the Czech Republic

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10286355" target="_blank" >RIV/00216208:11110/14:10286355 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/14:10286355

Result on the web

<a href="http://www.biomed.cas.cz/physiolres/pdf/63/63_245.pdf" target="_blank" >http://www.biomed.cas.cz/physiolres/pdf/63/63_245.pdf</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

The frequencies of six important thrombophilic mutations in a population of the Czech Republic

Original language description

The primary aim was to determine frequencies of mutations related to risk of venous thrombosis in healthy Caucasians in Central Bohemia. In a cohort of 1527 healthy individuals the frequency of risk alleles for the mutations FV Leiden and FII 20210G> A was 4.5 % and 1.3 %, respectively. Frequency of 4G PAI- 1 allele was 55.5 %. Genotype frequencies were: GG 91.03 %, GA 8.91 %, and AA 0.07 % for FV Leiden; GG 97.45 %, GA 2.49 %, and AA 0.07 % for FII 20210G> A; 4G/4G 30.26 %, 4G/5G 50.56 %, and 5G/5G 19.19 % for PAI-1. Frequency of the risk allele A in polymorphism SERPINC1 (IVS + 141G > A) was 11.3 %, and frequencies of genotypes were as follows: GG 78.36 %, GA 20.66 %, and AA 0.98 %. Frequency of the risk allele T for polymorphism GP6 13254T> C was 87.7 %, and frequencies of genotypes were as follows: TT 77.14 %, TC 21.15 %, and CC 1.70 %. Frequency of the risk allele A in polymorphism CYP4V2 (Lys259Gln) was 65.2 %, and frequencies of genotypes were: CC 12.25 %, CA 45.12 %, and AA 42.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FJ - Surgery including transplantology

OECD FORD branch

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Project

<a href="/en/project/NT11176" target="_blank" >NT11176: Association of plated genes polymorphism connected with atherothrombosis in patients with venous thromboembolism</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

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

Name of the periodical

Physiological Research

ISSN

0862-8408

e-ISSN

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Volume of the periodical

63

Issue of the periodical within the volume

2

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

9

Pages from-to

245-253

UT code for WoS article

000336459800012

EID of the result in the Scopus database

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