FREQUENCY AND ASSOCIATION OF 1691 (G>A) FVL,
20210 (G>A) PT AND 677 (C>T) MTHFR WITH
DEEP VEIN THROMBOSIS IN THE POPULATION
OF BOSNIA AND HERZEGOVINA
Jusić-Karić A, Terzić R, Jerkić Z, Avdić A, Pođanin M
*Corresponding Author: Amela Jusić-Karić, Ph.D., Faculty of Science and Mathematics, University of Tuzla,
Univerzitetska 4, 75 000 Tuzla, Bosnia and Herzegovina. Tel: +387-61-289-217. Fax: +387-35-320-861.
E-mail: amela.jusic @untz.ba
page: 43
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Abstract
The 1691 (G>A) factor V Leiden (FVL) and
20210 (G>A) prothrombin (PT) mutations are the
two most common genetic risk factors in venous
thromboembolism. The 677 (C>T) methylene tetrahydrofolate
reductase (MTHFR) mutation is the most
frequently mentioned as an independent genetic risk
factor for venous thromboembolism. As there are
limited published data on the prevalence of the 1691,
20210 and 677 mutations in our population, the aim
of this study was to determine the frequencies and
association of these deep vein thrombosis mutations
in the Bosnian population.
This study included 111 thromboembolic patients
and 207 healthy subjects with absence of
known risk factors for venous thromboembolism.
Genotyping of the 1691, 20210 and 677 mutations
was done by polymerase chain reaction (PCR), followed
by restriction digestion with MnlI, HindIII and
HinfI enzymes.
Out of the 111 patients, 18.0% were heterozygous
and 2.70% were homozygous for the 1691 mutation.
Among 207 healthy controls, 3.86%, were heterozygous
for the 1691 mutation. This study confirmed the association
of the 1691 mutation with deep vein thrombosis
in the Bosnian population odds ratio (OR) [95% confidence
interval (CI)] = 6.0 (2.62-14.14); p = 0.0001).
The 20210 mutation was detected in 2.70% of patients
and it was totally absent in the control group. Allele and
genotype frequency of 677 did not differ significantly
between the cases and controls (χ2 = 1.03; p = 0.309).
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