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

In diabetic retinopathy (DR) and other angiogenesis-associated diseases, increased levels of cytokines, inflammatory cells, and angiogenic factors are present. We investigated the hypothesis that rs2243250 polymorphism of the interleukin 4 (IL-4) gene or rs1800896 polymorphism of the interleukin 10 (IL-10) gene, and rs3212227 polymorphism of the 3’ untranslated region (3’ UTR) of the interleukin-12 p40 gene (IL12B) may be associated with the development of proliferative diabetic retinopathy (PDR) in Caucasians with type 2 diabetes (DM2). This cross sectional case — control study included 189 patients with PDR and 187 patients with type 2 diabetes without PDR. Polymorphisms rs1800896 of the IL-10 gene, rs2243250 of the IL-4 gene, and rs3212227 of IL12B gene were analyzed by ARMS -PCR and RFLP -PCR methods. Multivariate analysis demonstrated the GG genotype of the rs1800896 polymorphism of the IL-10 gene to be associated with increased risk for PDR (OR=1.99; 95% CI=1.11–3.57; P=0.02), whereas the TT genotype of the rs2243250 polymorphism of the IL-4 gene and the AA genotype of the rs3212227 polymorphism of the IL-12 gene were not independent risk factors for PDR. Our findings suggest that the genetic variations at the IL-10 promoter gene might be a genetic risk factor for PDR in Caucasians with type 2 diabetes.

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.