The aim of this paper is to present the preliminary results of the monitoring study of the frequency of congenital heart disease in newborns in Tuzla Canton (Bosnia and Herzegovina), and their distribution by sex of the newborn and maternal age. The study used the data from the book of protocols and case records of the Clinic for Gynecology and Obstetrics, the University Clinical Center in Tuzla. The analysis of 8,521 newborns between 1 January 2007 and 31 December 2008 has resulted in the frequency of 1.76%, i.e. 1.31% for the mature newborns and 0.45% for the premature newborns respectively. Of the total number of registered anomalies, 10% was associated with congenital anomalies of other systems. No statistically significant differences were found in the subsamples of both mature and premature newborns when it comes to the distribution of congenital heart disease by sex of newborns and maternal age. The frequency registered in the analyzed period suggests the necessity of screening and monitoring congenital heart disease in the observed population.

Molecular-genetic methods allow direct assessment of genetic diversity at the level of diversity of DNA structures between individuals of the same type. Factors that may influence the association of alleles with disease, such as ethnic or gender effect, can’t be determined without allelic frequencies in populations. The aim of our study was to determine the frequency of gene alleles for the hemochromatosis and the gene for angiotensin converting enzyme in the Bosnian-Herzegovinian population. The goal of study of gene copy number of DAZ was to determine the frequency of partial DAZ gene deletions and to analyse the existence of duplications in the general Bosnian population. Akademija nauka i umjetnosti Bosne i Hercegovine Aкадемија наука и умјетности босне и Xерцеговине Academy of Sciences and Arts of Bosnia and Herzegovina Međunarodni naučni skup „Struktura i dinamika ekoSiStema dinarida – Stanje, mogućnoSti i perSpektive“ International Conference „StruCture and dYnamiCS oF eCoSYStemS dinarideS – StatuS, poSSiBiLitieS and proSpeCtS“ 15-16. juni/June 2011, Sarajevo, Bosnia and Herzegovina Posebna izdanja/Special Editions CXLIX Odjeljenje prirodnih i matematičkih nauka Department of Natural Sciences and Mathematics Zbornik radova/Proceedings 23, 89-97. DOI: 10.5644/proc.eco-03.05 2012 ISBN: 978-9958-501-81-4

INTRODUCTION The recent studies of Parkinson's disease (PD) indicate that genetics and environmental factors may play an important role in developing of PD. Nowadays, the cell death and cell adhesion are pathogenetic mechanisms which could be related with PD. On the basis of relationship of those mechanisms with PD, the aim of this study was to identify new candidate genes for PD by integration of results of transcriptomics studies and results obtained by Biomedical Discovery Support System (BITOLA). MATERIALS AND METHODS For the detection of functional relationship between potential candidate gene and pathogenetic mechanisms associated with PD, we designed strategy of integration of results of transcriptomics studies with discovery approach in bibliographic data bases and BITOLA. Data of chromosome location, tissue-specific expression, function of potential candidate genes and their association with genetics disorders were obtained from Medline, Locus Link, Gene Cards and OMIM. RESULTS Integration and comparison of results obtained using the BITOLA system and analysis of transcriptomics studies identified six genes (MAPT, UCHL1, NSF, CDC42, PARK2 and GFPT1) that occur simultaneously in both group of results. The function of genes NSF, CDC42 and GFPT1 in the pathogenesis of PD has not been studied yet. CONCLUSIONS According to our result that aforementioned genes appeared in both groups of results and partially match the criteria set for the selection of candidate genes and their potential role in the development of PD, they should be tested by methods specifically intended for those three genes.

We evaluated possible roles of interleukin-8 gene polymorphisms (1633T/C-rs2227543, 251A/T-rs4073) and interleukin-18 gene polymorphisms (-607C/A-rs1946518, -137G/C-rs187238) in the development of diabetic retinopathy (DR) in Caucasians with type 2 diabetes. 271 patients with DR and 113 without diabetic retinopathy were enrolled in this cross-sectional study. We did not observe an association between either interleukin-8 gene polymorphisms (1633T/C, 251A/T) or interleukin-18 gene polymorphisms (-607C/A, -137G/C) and diabetic retinopathy in Caucasians with type 2 diabetes. We did not find statistically significant differences in interleukin-8 serum levels between diabetics with the TT and AA genotype and those with other genotypes. The interleukin-18 serum levels between diabetics with the CC genotype of the -607C/A polymorphism and those with other genotypes (AA, AC) were not significantly different. Moreover, we did not observe a statistically significant effect of the tested polymorphisms of either interleukin-8 or interleukin-18 genes on serum levels in diabetics. In conclusion, our study indicates that the examined polymorphisms of interleukin-8 (1633T/C, 251A/T) and interleukin-18 (-607C/A or the -137G/C) genes are not genetic risk factors for diabetic retinopathy. Therefore, they may not be used as genetic markers for diabetic retinopathy in Caucasians with type 2 diabetes.

In this study we investigated the association of the interleukin-1 receptor antagonist gene variable number tandem repeat (IL1RN VNTR) polymorphism and of the inhibitor of kappa B-like protein (IKBL) gene polymorphism with myocardial infarction (MI) in a group of patients with type 2 diabetes. The IL1RN VNTR and the IKBL+ 738T > C gene polymorphisms were tested in 374 Caucasians: 151 cases with MI and 223 subjects with no history of coronary artery disease. The IL1RN VNTR polymorphism was not a risk factor for MI in Caucasians with type 2 diabetes (genotype 22 vs. the rest: odds ratio (OR) 1.6; 95% confidence interval (CI) = 0.8-3.5; p = 0.2). We also failed to demonstrate that IKBL+ 738T > C gene polymorphism was associated with MI in patients with type 2 diabetes (OR = 0.9; 95% CI = 0.3-2.6; p = 0.9). We provide evidence that the IL1RN VNTR and the IKBL + 738T > C gene polymorphisms are not risk factors for MI in Caucasians with type 2 diabetes.

This study investigated the effects of sociocultural contexts on health and the psychological well-being of immigrant adolescents, aged 15 to 18 years, originally from Bosnia and Herzegovina and now living as displaced persons either in Bosnia, or immigrants in Croatia and Austria. The study addresses the social determinants of health with a specific focus on five factors in the social environment that might have an influence on health status: gender, socio-economic status (SES), perceived discrimination and exposure to violence, social support and religious commitment. Dependent variables included self-rated health, a count of self-reported objective health problems and a range of indices of psychological well-being (somatic stress, anxiety, depression and self-esteem). The purpose of the study was to examine whether social risk factors have an effect on health, which factors mediate these effects on self-rated health and to assess whether these effects differ by gender. Results indicate that perceived discrimination and violence are related to poor health through psychological stress as a major mechanism with stronger effects for girls in the study. Differences across the three sociocultural contexts reveal the complexity and specificity of the relationships between analyzed factors as the association between discrimination and health was attenuated for some groups due to the protective resources of immigrants.

This study investigated the effects of sociocultural contexts on health and the psychological well-being of immigrant adolescents, aged 15 to 18 years, originally from Bosnia and Herzegovina and now living as displaced persons either in Bosnia, or immigrants in Croatia and Austria. The study addresses the social determinants of health with a specific focus on five factors in the social environment that might have an influence on health status: gender, socio-economic status (SES), perceived discrimination and exposure to violence, social support and religious commitment. Dependent variables included self-rated health, a count of self-reported objective health problems and a range of indices of psychological well-being (somatic stress, anxiety, depression and self-esteem). The purpose of the study was to examine whether social risk factors have an effect on health, which factors mediate these effects on self-rated health and to assess whether these effects differ by gender Results indicate that perceived discrimination and violence are related to poor health through psychological stress as a major mechanism with stronger effects for girls in the study. Differences across the three socio-cultural contexts reveal the complexity and specificity of the relationships between analyzed factors as the association between discrimination and health was attenuated for some groups due to the protective resources of immigrants.

UNLABELLED Detection of enteroviruses in drinking water poses a very specific problem, since a very small number of particles have to be identified in huge water quantities. Currently, there are a number of methods to identify the concentration of virus particles and RNA templates to carry out RT-PCR, however, no standard method has yet been proposed. AIM The aim of this report is to suggest optimal methods for the preparation of RNA templates to carry out RT-PCR. MATERIAL AND METHODS In this experimental study, two different methods were employed on preparing RNA template. The concentration of virus particles in a large (10 L) and small (1 L) quantity of water was determined by use of the electropositive microporous virology filter (method 1 and method 2). Elution and flocculation of the virals particles were performed by organic extraction (method 1) and inorganic extraction (method 2). The sensitivity of the methods was assessed by testing the artificially contaminated water with 10(1) to 10(5) virus-particles using 1-L and 10-L containers of water. RESULTS Method 1 detected 10(5) and 10(4) virus particles, method 2 10(5), 10(4) and 10(3) virus particles from 10 L and 1 L of water, respectively, yielding a statistically significant difference (p<0.01; chi2 = 6.061). Using two-step RT-PCR with nested PCR method, enteroviruses were detected in 42/100 (42%) samples of surface drinking water and in 83% of the same samples using RT-PCR without nested PCR.

Genetic epidemiology studies of hereditary hemochromatosis (HHC) have shown a high prevalence of the C282Y mutation in individuals of the North Western European origin, whereas lower prevalence of HFE gene mutations was detected in the populations from southern European countries. However, no HFE mutation prevalence data have been provided for the population of Bosnia-Herzegovina so far. Therefore, the aim of this study was to determine the frequency of the C282Y and H63D HFE gene mutations in the population of Bosnia-Herzegovina. Among 200 analysed subjects 8 (4%) were C282Y heterozygotes; no C282Y homozygotes were found. The frequency of the H63D allele was 11.5%. There were 33 (16.5%) heterozygotes and 6 (3%) homozygotes for the H63D mutation. One (0.5%) compound heterozygote C282Y/H63D was identified. The observed C282Y and H63D allele frequency was 2.25% (95% confidence interval: 1.2-4.2) and 11.5% (95% confidence interval: 8.7-14.9), respectively. The prevalence of the C282Y and H63D mutations was estimated in Bosnia-Herzegovina, which fit well in the European northwest-to-southeast gradient of the C282Y mutation distribution. In addition, these results have an important implication for clinical evaluation of HHC in Bosnia-Herzegovina.

The extent and nature of southeastern Europe (SEE) paternal genetic contribution to the European genetic landscape were explored based on a high-resolution Y chromosome analysis involving 681 males from seven populations in the region. Paternal lineages present in SEE were compared with previously published data from 81 western Eurasian populations and 5,017 Y chromosome samples. The finding that five major haplogroups (E3b1, I1b* (xM26), J2, R1a, and R1b) comprise more than 70% of SEE total genetic variation is consistent with the typical European Y chromosome gene pool. However, distribution of major Y chromosomal lineages and estimated expansion signals clarify the specific role of this region in structuring of European, and particularly Slavic, paternal genetic heritage. Contemporary Slavic paternal gene pool, mostly characterized by the predominance of R1a and I1b* (xM26) and scarcity of E3b1 lineages, is a result of two major prehistoric gene flows with opposite directions: the post-Last Glacial Maximum R1a expansion from east to west, the Younger Dryas-Holocene I1b* (xM26) diffusion out of SEE in addition to subsequent R1a and I1b* (xM26) putative gene flows between eastern Europe and SEE, and a rather weak extent of E3b1 diffusion toward regions nowadays occupied by Slavic-speaking populations.

In this study we analyzed the contribution of genetic variability of the insertion/deletion (I/D) polymorphism of the angiotensin-I converting enzyme (ACE) gene to the predisposition for coronary artery disease (CAD) in a group of patients with type 2 diabetes. The I/D ACE gene polymorphism was tested in 366 Caucasians with type 2 diabetes: 148 cases with CAD and 218 subjects with no history of CAD. We failed to demonstrate that the ACE DD genotype was a risk factor for CAD in Caucasians with type 2 diabetes (OR 2.0, 95% CI 0.9-4.7; p = 0.1). In conclusion, we provide evidence that the ACE deletion/deletion genotype is not a risk factor for CAD in Caucasians with type 2 diabetes.