Bosnian-Herzegovinian Population Research Articles

Phylogenetic Changes in SARS-CoV-2 Virus in Bosnian-Herzegovinian Population Over the Period of Two Years.

All viral genomes, including the SARS-CoV-2 virus, mutate over time, and some of these mutations can affect the characteristics of the virus, such as the ease of spread, the severity of the patient's clinical picture, or the effect of vaccines, therapeutic drugs, diagnostic tools or other measures of public health and social protection. Because of all the above, it is imperative to carry out continuous sequencing of this pathogen. The main goal of this research was to obtain the highest quality genomic sequences of the SARS-CoV-2 virus, to compare the obtained sequences with the reference Wuhan-Hu-1 sequence and to obtain a high-quality genomic alignment in order to reconstruct the appropriate phylogenetic tree. For the purposes of this research, a next-generation semiconductor sequencing method was chosen. In this research, a total of 47 samples of nasopharyngeal and oropharyngeal swabs from patients from the human population of Bosnia and Herzegovina with a clinical diagnosis of COVID-19 were collected. In the processed 47 samples, there are several monophyletic groups on the constructed phylogenetic tree, of which one sample belongs to the same monophyletic group as the Wuhan-Hu-1 reference sequence. The greater number of samples is needed for a more comprehensive approach. Therefore, the results of this research can act as a guideline for the design of effective measures and strategies in order to solve problems regarding future pandemics as efficiently as possible.

Contemporary population genetics data for 23 Y-STR loci in the general Bosnian-Herzegovinian population


 
 Bosnia and Herzegovina is located in the South-Eastern Europe, characterized by numerous historical influences, massive migration processes and complex population structure. For that reason, the aim of this study is to provide an accurate and precise update of the population genetics data of allele frequencies on 23 Y-STR loci in Bosnia and Herzegovina using larger sample size. For this purpose, 480 adult male individuals from the general population have been genotyped over 23 Y-STR loci contained in the PowerPlex Y23 system. Population genetics parameters have been calculated, namely allele and haplotype frequencies, gene and haplotype diversity, as well as Rst and P values for the assessment of interpopulation differences. The obtained results are in close agreement with previously published data for Bosnian-Herzegovinian population, as well as for local subpopulations. This study offers significantly increased resolution and information content, with 454 unique haplotypes. Population comparison reveals no statistically significant differences between the study population and 12 European populations used for comparison, as visualized through an MDS plot and neighbour-joining phylogenetic tree. This study offers representative data for local Y chromosomes that can be used for forensic applications, paternity and kinship testing, as well as for genealogical studies.
 
 
 
 

Haplogroup Prediction Using Y-Chromosomal Short Tandem Repeats in the General Population of Bosnia and Herzegovina.

Human Y-chromosomal haplogroups are an important tool used in population genetics and forensic genetics. A conventional method used for Y haplogroup assignment is based on a set of Y-single nucleotide polymorphism (SNP) markers deployed, which exploits the low mutation rate nature of these markers. Y chromosome haplogroups can be successfully predicted from Y-short tandem repeat (STR) markers using different software packages, and this method gained much attention recently due to its labor-, time-, and cost-effectiveness. The present study was based on the analysis of a total of 480 adult male buccal swab samples collected from different regions of Bosnia and Herzegovina. Y haplogroup prediction was performed using Whit Athey’s Haplogroup Predictor, based on haplotype data on 23 Y-STR markers contained within the PowerPlex® Y23 kit. The results revealed the existence of 14 different haplogroups, with I2a, R1a, and E1b1b being the most prevalent with frequencies of 43.13, 14.79, and 14.58%, respectively. Compared to the previously published studies on Bosnian-Herzegovinian population based on Y-SNP and Y-STR data, this study represents an upgrade of molecular genetic data with a significantly larger number of samples, thus offering more accurate results and higher probability of detecting rare haplogroups.

Prevalence of rare F5 variants in general population from Bosnia and Herzegovina

Human gene F5, encoding coagulation factor V, was previously reported to be highly polymorphic. Apart from FV Leiden, several other rare variants have been detected in clinical practice and associated with thrombotic events, especially in cases when patient's phenotype and FV Leiden genotype were not in agreement. In this study, the prevalence of 17 rare F5 variants has been studied on a sample of 130 healthy adult individuals from the general Bosnian-Herzegovinian population. DNA was isolated from buccal swab samples, while genotyping was performed using MALDI-TOF MS method. The results have shown that Asp2194Gly and Met2120Thr are polymorphic in the study population with minor allele frequencies of 0.077 and 0.073, respectively. Additionally, these two variants were mutually exclusive with FV Leiden and none of them was positively associated with participants' family history of cardiovascular or cerebrovascular diseases. While the obtained results are in agreement with previously reported data for the general Caucasian populations, it is worth noting that only two rare F5 variants were detected in the study population, albeit at considerable frequencies. Still, scientific information on rare F5 variants is rather scarce and further studies aiming to assess functional importance of these variants, as well as their role as prothrombotic factors are necessary.

Distribution of inherited thrombophilia markers in Bosnian-Herzegovinian population: a review of previous studies

Distribution of inherited thrombophilia markers in Bosnian-Herzegovinian population: a review of previous studies

Digital dermatoglyphics in the evaluation of the genetic basis of breast cancer in Bosnian-Herzegovinian population - quantitative analysis.

Aim To determine differences in quantitative traits of digital dermatoglyphics between breast cancer women and the women in the control group (healthy women). Methods This case-control study included digital dermatoglyphics of 50 patients with confirmed breast cancer diagnosis compared with 50 healthy examinees with the absence of familial history of any type of cancer. Collecting samples was performed among Bosnian-Herzegovinian population by Printake method. The comparison of the mean values between the examined groups was made by the Student's t-test and Mann-Whitney U test. Results The results showed that, with regards to the pattern intensity, no statistically significant difference was detected between the two examined groups (p>0.05).The absence of any significant difference in the number of papillary ridges on an individual finger between the breast cancer patients and the control group was found (p>0.05), although the total number of papillary ridges on all ten fingers had somewhat lower values in the examined group. Conclusion This research confirms the existence of genetic predisposition for breast cancer development, emphasizing the relevance of hereditary factors in the ethiopathogenesis of this disease. The quantitative traits of digital dermatoglyphics were not a reliable and predictive tool for detecting a potential risk for breast cancer in small populations.

Population study of thrombophilic markers and pharmacogenetic markers of warfarin prevalence in Bosnia and Herzegovina

AimTo investigate the prevalence of common genetic variants that can serve as markers of thrombophilia and warfarin pharmacogenetics in Bosnia and Herzegovina.MethodsThe 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-of-flight mass spectrometry.ResultsMinor 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.ConclusionThis 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.

Sevdalinka as Perceived by Music Performers in Belgrade

From a phenomenological point of view, Sevdalinka – the urban song of the Bosnian-Herzegovinian population, has always attracted scholarly interest. The presence of this form is evident in Serbia as well, performed only vocally/instrumentally and vocally-instrumentally combined. In the context of empirical research for this study, a scaling technique assessment scales were used. The study is aimed at sublimating the opinions of renowned vocal and instrumental music performers (N=16) in Belgrade, in order to gain a detailed insight into the particularities of the interpretations, as well as the musical and aesthetic characteristics of Sevdalinka.

Mutation Analysis of Autosomal STR Loci Commonly Used in Paternity Testing in Bosnia and Herzegovina

Mutation analysis in forensic genetics and occurrence of mutations at short-tandem repeat (STR) loci, are very important in paternity testing and precise elucidation of obtained genetic profiles. To determine these locus-specific mutations in Bosnian-Herzegovinian population and their rate, 15 or 22 autosomal loci were typed using PowerPlex 16 and PowerPlex Fusion systems. In total, 1253 individuals within 583 parenthood testing cases were profiled at the Institute for Genetic Engineering and Biotechnology, University of Sarajevo during the period from 2009-2018. Out of total cases, in 13 cases 14 mutations were discovered at 11 loci. Among all tested DNA profiles two mutations occurred at D8S1179, D18S51 and FGA loci each, and one mutation at PENTA D, D3S1358, CSF1P0, D21S11, D5S818, vWA, D16S539, PENTA E. Mutation rates were calculated for 11 loci and were in consistency with mutation rates reported for correspondent locus. In our study, one mutation at locus PENTA D derives from maternal source. Also in one trio paternity case two single-step mutations at loci D16S539 and D18S51 were observed. Our results confirmed mutation analysis is important in paternity testing and therefore much attention should be directed at their analysis.

Molecular diversity of 23 Y-chromosome short tandem repeat loci in the population of Tuzla Canton, Bosnia and Herzegovina

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.

Y-Chromosome Haplogroups in the Bosnian-Herzegovinian Population Based on 23 Y-STR Loci

In a study of the Bosnian-Herzegovinian (B&H) population, Y-chromosome marker frequencies for 100 individuals, generated using the PowerPlex Y23 kit, were used to perform Y-chromosome haplogroup assignment via Whit Athey's Haplogroup Predictor. This algorithm determines Y-chromosome haplogroups from Y-chromosome short tandem repeat (Y-STR) data using a Bayesian probability-based approach. The most frequent haplogroup appeared to be I2a, with a prevalence of 49%, followed by R1a and E1b1b, each accounting for 17% of all haplogroups within the population. Remaining haplogroups were J2a (5%), I1 (4%), R1b (4%), J2b (2%), G2a (1%), and N (1%). These results confirm previously published preliminary B&H population data published over 10 years ago, especially the prediction about the B&H population being a part of the Western Balkan area, which served as the Last Glacial Maximum refuge for the Paleolithic human European population. Furthermore, the results corroborate the hypothesis that this area was a significant stopping point on the "Middle East–Europe highway" during the Neolithic farmer migrations. Finally, since these results are almost completely in accordance with previously published data on B&H and neighboring populations generated by Y-chromosome single nucleotide polymorphism analysis, it can be concluded that in silico analysis of Y-STRs is a reliable method for approximation of the Y-chromosome haplogroup diversity of an examined population.

Y-Chromosome Haplogroups in the Bosnian-Herzegovinian Population Based on 23 Y-STR Loci.

In a study of the Bosnian-Herzegovinian (B&H) population, Y-chromosome marker frequencies for 100 individuals, generated using the PowerPlex Y23 kit, were used to perform Y-chromosome haplogroup assignment via Whit Athey's Haplogroup Predictor. This algorithm determines Y-chromosome haplogroups from Y-chromosome short tandem repeat (Y-STR) data using a Bayesian probability-based approach. The most frequent haplogroup appeared to be I2a, with a prevalence of 49%, followed by R1a and E1b1b, each accounting for 17% of all haplogroups within the population. Remaining haplogroups were J2a (5%), I1 (4%), R1b (4%), J2b (2%), G2a (1%), and N (1%). These results confirm previously published preliminary B&H population data published over 10 years ago, especially the prediction about the B&H population being a part of the Western Balkan area, which served as the Last Glacial Maximum refuge for the Paleolithic human European population. Furthermore, the results corroborate the hypothesis that this area was a significant stopping point on the "Middle East-Europe highway" during the Neolithic farmer migrations. Finally, since these results are almost completely in accordance with previously published data on B&H and neighboring populations generated by Y-chromosome single nucleotide polymorphism analysis, it can be concluded that in silico analysis of Y-STRs is a reliable method for approximation of the Y-chromosome haplogroup diversity of an examined population.

Sex determination of the Bosnian-Herzegovinian population based on odontometric characteristics of permanent lower canines

Introduction: Sex determination is one of fi rst and most important steps in identifying disintegrated bodies and skeletal remains. During the exhumation of bodies from the mass graves and archaeologicalexcavations, it is quite often the case that not all bones of one person are found, therefore, teeth and the scull are the only true identifi cation material. Canines are teeth most appropriate for sex determination.The aim of the research was to determine sex identity of the Bosnian-Herzegovinian population based on odontometric characteristics of permanent lower canines.Methods: The research sample included 180 patients of the Dental Offi ce, of both sexes. All patients with permanent lower right and left canines, without caries, with healthy state of gingiva and periodontium,without crown restorations were included in the research. Measurement was done directly in the patients' mouth using a digital sliding caliper. Greatest mesiodistal width of the lower right and left canine and intercuspal distance of the lower jaw were measured.Results: All parameters were higher in case of male, including Mandibular Canine Index (MCI) (p<0.01). The precision of appraising the sex identity for the Bosnian-Herzegovinian population, based on MCI on the right, amounts 68.89% and 68.54% on the left.Conclusions: The study showed that right canines are signifi cantly broader than the left ones and they are broader in case of males. Lower right canines, that is, MCI on the right, indicates greater accuracy insex determination in relation to left lower canines. The accuracy in sex determination for all variables is higher for the female.

Analysis of the polymorphism -590 C/T of IL-4 gene in Bosnian-Herzegovinian population

Analysis of the polymorphism -590 C/T of IL-4 gene in Bosnian-Herzegovinian population