Balkan Journal of Medical Genetics

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

RESULTS

In this study, we investigated the frequency of the most common prothrombotic factors and their association with DVT in patients with DVT and healthy controls in Bosnia and Herzegovina. The frequencies of allele and genotypes of 1691, 20210 and 677 mutations are summarized in Table 1. Of the three tested mutations, only the 1691 mutation was shown to be significantly associated with DVT with an OR (95% CI) = 6.0 (2.62-14.14); p = 0.0001. No association between DVT and the 20210 and 677 mutations was found. Table 2 shows the allele and genotypes frequencies of the 1691, 20210 and 677 mutations according to gender. Allele and genotype frequencies of the 1691 mutation did not differ significantly between genders in compared groups (χ2 = 0.359; p = 0.549), but we found a statistically significant difference of its frequency between women with DVT and women of the control group (χ2 = 12.45; p = 0.001), and men with DVT and the control group (χ2 = 11.42; p = 0.001). The frequencies of combined genotypes of the 1691, 20210 and 677 mutations are presented in Table 3. Two individuals (1.16%) with combined heterozygous genotypes of 1691 and 20210 were part of the patients’ group. The highest frequency (14.89%) of combined genotypes was detected for compound heterozygotes for 1691 and 677 mutations in the patients’ group. This combination of genotypes was observed in 6.19% controls. In the patients’ group we observed 6.39% individuals who were heterozygous for 1691 (GA) and homozygous (TT) for 677. Based on that, we did not identify any homozygote (AA) for 1691 in the control group, while its combination with the other two mutations was absent.

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