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E. Mahmutbegović, D. Marjanović, Edin Medjedović, Nevena Mahmutbegović, S. Dogan, A. Valjevac, E. Czerska, Anna Pawińska-Matecka et al.

The relationship between genetic risk factors of thrombophilia and pregnancy loss (PL) is being discussed. The focus has been on F5 1691G>A, F2 20210G>A, and MTHFR 677C>T polymorphisms that may predispose women to microthrombosis during the stages of embryo implantation and placentation. Although, the frequencies of these polymorphisms were reported in different populations, such studies have not yet been performed in Bosnian population. In this study, we determined the prevalence of F5 G>A (rs6025), F2 G>A (rs1799963) and MTHFR C>T (rs1801133) polymorphisms in Bosnian women. A total of 154 women with PL, mean age 33 (±5.4) years, were enrolled in the study. As a control group, 154 mothers [mean age 31.4 (±6.7) years] with at least one live-born child were included. We used real-time polymerase chain reaction (PCR) to determine the frequencies of F5 G>A and F2 G>A genotypes, and PCR-restriction fragment length polymorphism (RFLP) for analyzing MTHFR C>T genotypes. The frequency of heterozygotes for F5 and F2 was significantly higher in women with venous thrombosis (VT) compared to women without VT (p = 0.047 and p = 0.001, respectively). There was no significant difference in the distribution of MTHFR genotypes and alleles between these two groups. In addition, we observed no significant differences in the genotype and allele frequencies between the group with PL and control group, for all investigated polymorphisms. The allele frequencies for 1691A (F5), 20210A (F2), and 677T (MTHFR) reported in this study are consistent with the data obtained for other European countries, however, we were not able to confirm the association between the three polymorphisms and PL in Bosnian women.

S. Dogan, C. Gurkan, M. Doğan, Hasan Emin Balkaya, R. Tunç, Damla Kanliada Demirdov, N. A. Ameen, D. Marjanović

Widely considered as one of the cradles of human civilization, Mesopotamia is largely situated in the Republic of Iraq, which is also the birthplace of the Sumerian, Akkadian, Assyrian and Babylonian civilizations. These lands were subsequently ruled by the Persians, Greeks, Romans, Arabs, Mongolians, Ottomans and finally British prior to the independence. As a direct consequence of this rich history, the contemporary Iraqi population comprises a true mosaic of different ethnicities, which includes Arabs, Kurds, Turkmens, Assyrians, and Yazidis among others. As such, the genetics of the contemporary Iraqi populations are of anthropological and forensic interest. In an effort to contribute to a better understanding of the genetic basis of this ethnic diversity, a total of 500 samples were collected from Northern Iraqi volunteers belonging to five major ethnic groups, namely: Arabs (n = 102), Kurds (n = 104), Turkmens (n = 102), Yazidis (n = 106) and Syriacs (n = 86). 17-loci Y-STR analyses were carried out using the AmpFlSTR Yfiler system, and subsequently in silico haplogroup assignments were made to gain insights from a molecular anthropology perspective. Systematic comparisons of the paternal lineages of these five Northern Iraqi ethnic groups, not only among themselves but also in the context of the larger genetic landscape of the Near East and beyond, were then made through the use of two different genetic distance metric measures and the associated data visualization methods. Taken together, results from the current study suggested the presence of intricate Y-chromosomal lineage patterns among the five ethic groups analyzed, wherein both interconnectivity and independent microvariation were observed in parallel, albeit in a differential manner. Notably, the novel Y-STR data on Turkmens, Syriacs and Yazidis from Northern Iraq constitute the first of its kind in the literature. Data presented herein is expected to contribute to further population and forensic investigations in Northern Iraq in particular and the Near East in general.

M. Dzehverovic, A. Ahatović, N. Pojskić, N. Lojo-Kadrić, A. Pilav, D. Marjanović, J. Cakar

Introduction: Single nucleotide polymorphisms (SNPs) have lately been used for prediction of metabolic processes that may be related to obesity. The aim of our study was to examine the association of SNPs of several genes with obesity and physical activity in 18 healthy volunteers. Methods: We used buccal swabs to collect and extract DNA from 18 volunteers. Pyrosequencing was used for molecular analysis of 13 polymorphisms in 10 genes (APOA2, MTHFR, MCM6, peroxisome proliferators-activated receptor gamma, FABP2, beta-2-adrenergic receptor (ADRB)2, ADRB3, A-actinin-3, angiotensin-converting enzyme, and FUT2). The volunteers’ personal data included body mass index (BMI), dietary practice and information on daily fitness and workout routine. Association between the 13 observed gene polymorphisms and individual BMI status (normal or overweight) was analyzed. Results of the DNA analysis were used for the expert evaluation by nutritionists and physiologists to obtain optimal regulation of nutrition and exercise. The volunteers had a dietary and fitness program for 12 months which they tracked by filling in a suitable study form. Results: 14 volunteers had a moderate genetic predisposition for abdominal adipose-tissue accumulation, while 4 of them had genotypes not associated with abdominal fat tissue accumulation. A statistically significant difference was found between the value of BMI before and after the implementation of personalized training and nutrition plan within the group of overweight volunteers (paired sample t=3.382; p = 0.006; exact p = 0.015). The single-locus F-test showed no association between the gene polymorphisms and BMI values. In addition, no correlation was detected between the gene polymorphisms and amount of BMI reduction prior and after the implementation of the personalized training and nutrition plan within the overweighed group of volunteers. Conclusion: Optimal nutrition and training plan are crucial for the BMI reduction as observed in the overweighed volunteers after the 12-month personalized training and individualized nutrition plan. However, the analyzed polymorphisms were not significantly associated with the obesity in this study.

Abstract Background: Tuzla Canton is the most populated region in the ethnically mixed territory of Bosnia and Herzegovina, whose genetic analysis could provide an insight into past demographic events. Aim: Analysis of 23 Y-chromosome STR markers in the population of Tuzla Canton and investigation of the genetic relationship of the male population of the Tuzla Canton and that of the larger Bosnian and Herzegovinian population as well as neighbouring and other European populations. Subjects and methods: The study was conducted among 100 unrelated healthy adult males from Tuzla Canton that have been genotyped using 23 Y-STR loci included in the PowerPlex Y23 kit. Statistical parameters such as haplotype diversity and allele frequencies were calculated, as well as the Rst-based genetic distances between the new dataset and those from Bosnia and Herzegovina and elsewhere, which were then visualised through multi-dimensional scaling plot and neighbour-joining phylogenetic tree analyses. Results: The PowerPlex Y23 kit has shown high discrimination capacity, as all 100 individuals have unique haplotypes. The newly incorporated loci seem to be highly informative. Population comparison reveals no statistically significant differences between the study population and the general Bosnian-Herzegovinian population, and between the study population and neighbouring populations. Conclusion: These results could be used as an additional investigation of the genetic relationship between the regional populations in Bosnia and Herzegovina and neighbouring human populations, as well as for further human population and forensic genetics studies.

A. Pilav, N. Pojskić, A. Ahatović, M. Dzehverovic, J. Cakar, D. Marjanović

Aim To determine newest the most accurate allele frequencies for 15 short tandem repeat (STR) loci in the Bosnian and Herzegovinian population, calculate statistical parameters, and compare them with the relevant data for seven neighboring populations. Methods Genomic DNA was obtained from buccal swabs of 1000 unrelated individuals from all regions of Bosnia and Herzegovina. Genotyping was performed using PowerPlex® 16 System to obtain allele frequencies for 15 polymorphic STR loci including D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX, and FGA. The calculated allele frequencies were also compared with the data from neighboring populations. Results The highest detected value of polymorphism information content (PIC) was detected at the PentaE locus, whereas the lowest value was detected at the TPOX locus. The power of discrimination (PD) values had similar distribution, with Penta E showing the highest PD of 0.9788. While D18S51 had the highest value of power of exclusion (PE), the lowest PE value was detected at the TPOX locus. Conclusion Upon comparison of Bosnian and Herzegovinian population data with those of seven neighboring populations, the highest allele frequency differentiation was noticed between Bosnian and Herzegovinian and Turkish population at 5 loci, the most informative of which was Penta E. The neighbor-joining dendrogram constructed on the basis of genetic distance showed grouping of Slovenian, Austrian, Hungarian, and Croatian populations. Bosnian and Herzegovinian population was between the mentioned cluster and Serbian population. To determine more accurate distribution of allelic frequencies and forensic parameters, our study included 1000 unrelated individuals from all regions of Bosnia and Herzegovina, and our findings demonstrated the applicability of these markers in both forensics and future population genetic studies.

Senol Dogan, N. Nalcaci, S. Doğan, A. Badnjević, A. Kurtovic, D. Marjanović

Stress is a part of human life, especially for urban citizens. Stress is inseparable characteristics of student life, especially exam days. Stress management is one of the first steps which can affect students success during the exams, especially in universities. Blood pressure is the first stress observation symptom to understand its level. Therefore, to understand the stress impact of university students during the exam weeks, a conditional experiment has been designed. 200 students were selected from Bosnian and Turkish female and male. The students` blood systolic, diastolic and heart rate were measured to detect the differences between non-exams days and exam days. The blood pressure measurement has been done 3 times in specific times, non-exam days, midterm and final days. Since non-exam days were taken as stress off days, they were supposed that these days were control data to compare with exam days to see the differences. As a result of the measurements, Bosnian females showed the highest increasing, systolic 13.2%, diastolic 9.3% and heart rate 8.5% during the midterm exam days. The group has been followed by Bosnian males, systolic 6.9%, diastolic 6.1% and heart rate 6.63 increased during the midterm days. Although Turkish students blood pressure and heart rate increased, the values were less than Bosnian students. Moreover, high correlation significance results belonged to Bosnian females and males, 0.722 and 0.698 respectively. Finally, it was concluded that if students have scholarship they have more blood pressure during the exams. While 95% of Bosnian females and 90% of Bosnian males have some scholarship, no Turkish students have scholarship demonstrated the differences between Bosnian and Turkish students blood measurements.

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