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The aim of this study was to determine the frequencies of alleles and genotypes of the single nucleotide polymorphism of the FTO gene (rs17817449) and the intensity of physical activity in relation to the BMI of subjects in the student population. Genotyping was performed using the PCR-RFLP method. 94 subjects stated that they were not physically active, 57 subjects were moderately physically active and 52 were intensely physically active. In the total sample, the risk allele G of the investigated polymorphism rs17817449 of the FTO gene had a lower frequency (41.8%) compared to the normal allele T (58.13%). Although a higher frequency of the risk allele G was found in the group of overweight subjects compared to the group with BMI < 25, the difference was not statistically significant (p > 0.05).

The aim of the paper is to present the results of the VNTR gene polymorphism genetic variants molecular typing for endothelial nitric oxide synthase (eNOS) in human population of Tuzla Canton. Based on the analysis of the distribution of eNOS gene genotypes in the total sample of respondents, the highest frequency was recorded for the (b/b) genotype, which was 73.0%. For the heterozygous (a/b) genotype of the eNOS gene, a frequency of 24.0% was determined, and a frequency of 3.0% was recorded for the (a/a) genotype. The research resulted in a database of local and global significance, namely, the incorporation of these data into the existing regional and European genetic database.

Aim of this paper was to determine the frequency of congenital anomalies in a sample of newborns of Tuzla Canton and as well as their distribution according to gender, mother’s age and marital distance category. Research was undertaken using the retrospective analysis on the Clinic for Gynecology and Obstetrics of University Clinical Center in Tuzla. By analyzing medical documentation of 17223 newborns, we determined the frequency of congenital anomalies of 5.24%. Highest frequency of congenital anomalies was found in the newborns whose mothers are older than 35. It was found that the frequency of congenital anomalies in the observed population is within the range of variation of this parameter with data from the literature.

Analysis of 4G/5G polymorphisms of PAI-1 gene in interaction with other genetic and external risk factors that induce development of venous thromboembolism can be used for risk assessment for development of venous thromboembolism. Research was conducted on 202 examinees of both genders, older than 18, from north-eastern Bosnia. Experimental group included 100 examinees with diagnosed DVT and 101 examinees who until the sampling procedure did not have diagnosed DVT. In DVT group, following genotype frequencies were determined: 27% of examinees had a normal genotype 5G/5G, 68% are heterozygotes and 5% are mutated homozygotes 4G/4G. In the control group, frequencies of 4G/5G polymorphisms of PAI-1 gene were: 42.6% of examinees have 5G/5G genotype, 55.4% are heterozygotes 4G/5G and 2% are 4G/4G genotype. Obtained results support the hypothesis that PAI-1 in interaction with other genetic and external risk factors probably induces the development of venous thromboembolism.

Aim To investigate association of factor V Leiden, prothrombin G20210A, MTHFR C677T and PAI-1 4G/5G polymorphisms with recurrent pregnancy loss in Bosnian women. Methods A total of 60 women with two or more consecutive miscarriages before 20 weeks of gestation with the same partners and without history of known causes or recurrent pregnancy loss were included. A control group included 80 healthy women who had one or more successful pregnancies without history of any complication which could be associated with miscarriages. Genotyping of factor V Leiden, prothrombin G20210A, MTHFR C677T and PAI-1 4G/5G polymorphisms were performed by polymerase chain reaction/restriction fragments length polymorphism method (PCR/RFLP). Results Both factor V Leiden and MTHFR C677T polymorphisms were significantly associated with recurrent pregnancy loss (RPL) in Bosnian women while prothrombin G20210A and PAI-1 4G/5G polymorphisms did not show strongly significant association. Conclusion The presence of thrombophilic polymorphisms may predispose women to recurrent pregnancy loss. Future investigation should be addressed in order to find when carriers of those mutations, polymorphisms should be treated with anticoagulant therapy.

One of the genes considered as a risk factor for coronary artery disease (CAD) is the angiotensin-converting enzyme (ACE) gene. Many studies have been published regarding the relation between the ACE gene insertion/deletion (I/D) polymorphism and CAD. However, studies have provided controversial results. To explore this further in the population of Bosnia and Herzegovina, we compared the ACE I/D genotypes and alleles distribution between two groups: 100 CAD patients and 100 healthy control subjects. The higher distribution of DD genotype (47.0%) and D allele (65.5%) were found in CAD patients compared to controls (DD 34.0%; D allele 51.0%). Genotype odds ratio, (DD + ID) on the II, was 2.471 (1.252 – 4.876; 95% CI; p < 0.05). This leads to the conclusion that the DD genotype of the ACE I/D polymorphism affects the risk for development of coronary artery disease in Bosnian population.

One of the genes considered as a risk factor for coronary artery disease (CAD) is the angiotensin-converting enzyme (ACE) gene. Many studies have been published regarding the relation between the ACE gene insertion/deletion (I/D) polymorphism and CAD. However, studies have provided controversial results. To explore this further in the population of Bosnia and Herzegovina, we compared the ACE I/D genotypes and alleles distribution between two groups: 100 CAD patients and 100 healthy control subjects. The higher distribution of DD genotype (47.0%) and D allele (65.5%) were found in CAD patients compared to controls (DD 34.0%; D allele 51.0%). Genotype odds ratio, (DD + ID) on the II, was 2.471 (1.252 – 4.876; 95% CI; p < 0.05). This leads to the conclusion that the DD genotype of the ACE I/D polymorphism affects the risk for development of coronary artery disease in Bosnian population.