Original scientific paper
https://doi.org/10.3325/cmj.2019.60.212
Population study of thrombophilic markers and pharmacogenetic markers of warfarin prevalence in Bosnia and Herzegovina
Adna Ašić
orcid.org/0000-0001-6197-9572
; International Burch University, Genetics and Bioengineering, Sarajevo, Bosnia and Herzegovina
Ramona Salazar
; Labor Dr. Heidrich und Kollegen MVZ GmbH, Molecular Genetics, Hamburg, Germany
Serkan Doğan
; International Burch University, Genetics and Bioengineering, Sarajevo, Bosnia and Herzegovina
Wolfgang Höppner
; Labor Dr. Heidrich und Kollegen MVZ GmbH, Molecular Genetics, Hamburg, Germany
Damir Marjanović
; International Burch University, Genetics and Bioengineering, Sarajevo, Bosnia and Herzegovina
Dragan Primorac
orcid.org/0000-0001-5565-080X
; St. Catherine Specialty Hospital, Zabok/Zagreb, Croatia
Abstract
Aim To investigate the prevalence of common genetic
variants that can serve as markers of thrombophilia and
warfarin pharmacogenetics in Bosnia and Herzegovina.
Methods The study was performed between August and
October 2017 on 130 healthy unrelated adult volunteers
from Bosnian-Herzegovinian population sample. The prevalence
of the following genetic variants was determined:
F5 c.1601G>A (factor V Leiden), F2 c.*97G>A (factor II or
prothrombin mutation), F13A1 (factor XIII) c.103G>T, MTHFR
(methylenetetrahydrofolate reductase) c.665C>T and
c.1286A>C, as well as PAI-1 (plasminogen activator inhibitor
1) c.-816A>G and c.-844G>A as markers of thrombophilia
risk, and *2 and *3 alleles of CYP2C9 (cytochrome
P450 2C9) and five variants of VKORC1 (vitamin K epoxide
reductase complex subunit 1) as markers of warfarin pharmacogenetics.
DNA was isolated from buccal swabs using
salting out method, while genotyping was performed using
matrix-assisted laser desorption/ionization-time-offlight
mass spectrometry. Results Minor allele frequencies for two main thrombophilia
risk factors, F5 c.1601G>A and F2 c.*97G>A were
0.023 and 0.008, respectively. Combined data for the markers
of warfarin pharmacogenetics imply that 57.4% study
participants can be expected to metabolize warfarin at an
extensive, 40.3% at intermediate, and 2.3% at a poor rate.
Conclusion This study reports the first extensive population
genetic data for thrombophilia and warfarin pharmacogenetic
markers in Bosnia and Herzegovina. Allele frequencies
of genetic variants are within the general average
for European populations, and their presence implies the
necessity of introduction of personalized medicine in warfarin-
mediated antithrombotic therapy.
Keywords
Hrčak ID:
240030
URI
Publication date:
15.6.2019.
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