Review of Croatian genetic heritage as revealed by mitochondrial DNA and Y chromosomal lineages

The aim of this review is to summarize the existing data collected in high-resolution phylogenetic studies of mitochondrial DNA and Y chromosome variation in mainland and insular Croatian populations. Mitochondrial DNA polymorphisms were explored in 721 individuals by sequencing mtDNA HVS-1 region and screening a selection of 24 restriction fragment length polymorphisms (RFLPs), diagnostic for main Eurasian mtDNA haplogroups. Whereas Y chromosome variation was analyzed in 451 men by using 19 single nucleotide polymorphism (SNP)/indel and 8 short tandem repeat (STR) loci. The phylogeography of mtDNA and Y chromosome variants of Croatians can be adequately explained within typical European maternal and paternal genetic landscape, with the exception of mtDNA haplogroup F and Y-chromosomal haplogroup P* which indicate a connection to Asian populations. Similar to other European and Near Eastern populations, the most frequent mtDNA haplogroups in Croatians were H (41.1%), U5 (10.3%), and J (9.7%). The most frequent Y chromosomal haplogroups in Croatians, I-P37 (41.7%) and R1a-SRY1532 (25%), as well as the observed structuring of Y chromosomal variance reveal a clearly evident Slavic component in the paternal gene pool of contemporary Croatian men. Even though each population and groups of populations are well characterized by maternal and paternal haplogroup distribution, it is important to keep in mind that linking phylogeography of various haplogroups with known historic and prehistoric scenarios should be cautiously performed

Evaluation of laser beam interaction with carbon based material: Glassy carbon

U ovom radu se analizira interakcija laserskih snopova sa ugljeničnim materijalom (staklasti ugljenik). Korišćen je Nd3+:YAG lasera (1.06 μm, odnosno bliska IC oblast) u ms režimu rada sa snopovima različitih gustina energije. U svim eksperimentima, u primenjenom režimu rada, uočene su površinske povrede na uzorku. Povrede nastale dejstvom lasera su analizirane optičkim i SEM mikroskopima. Program Image J je korišćen za kvantitativnu analizu nastalih povreda na osnovu mikrografa dobijenih optičkom i SEM mikroskopijom. Temperaturna raspodela u izloženom uzorku je dobijena numeričkom simulacijom zasnovanom na programskom paketu COMSOL Multiphysics 3.5 u ograničenom opsegu energija.Laser beam interaction with carbon based material (glassy carbon) is analyzed in this paper. A Nd3+:YAG laser beam (1.06 μm, i.e., near infrared range (NIR)) in ms regime with various energy densities is used. In all experiments, provided in applied working regimes, surface damages have occurred. The results of laser damages are analyzed by light and scanning electron microscopy (SEM). Image J software is used for quantitative analysis of generated damages based on micrographs obtained by light and SEM microscopes. Temperature distribution in the exposed samples is evaluated by numerical simulations based on COMSOL Multiphysics 3.5 software in a limited energy range

E2 allele of the Apolipoprotein E gene polymorphism is predictive for obesity status in Roma minority population of Croatia

<p>Abstract</p> <p>Background and Aims</p> <p>The Roma (Gypsies) are a transnational minority, founder population characterized by unique genetic background modeled by culturally determined endogamy. The present study explores whether the widely found cardiovascular diseases (CVD) risk effects of ACE I/D, APOE (ε2, ε3, ε4), eNOS-VNTR and LEP G2548A polymorphisms can be replicated in this specific population.</p> <p>Methods and Results</p> <p>The community-based study was carried on 208 adult Bayash Roma living in rural settlements of eastern and northern Croatia. Risk effect of four CVD candidate polymorphisms are related to the most prominent classical CVD risk phenotypes: obesity indicators (body mass index and waist circumference), hypertension and hyperlipidemia (triglycerides, HDL and LDL cholesterol). For all of them the standard risk cut-offs were applied. The extent to which the phenotypic status is related to genotype was assessed by logistic regression analysis. The strongest associations were found for ε2 allele of the APOE as a predictor of waist circumference (OR 3.301; 95%CI 1.254-8.688; p = 0.016) as well as for BMI (OR 3.547; 95%CI 1.471-8.557; p = 0.005). It is notable that ε3 allele of APOE gene turned out to be a protective genetic factor determining low lipid levels.</p> <p>Conclusion</p> <p>The strength of the relation and the similarity of the results obtained for both tested indicators of obesity provide firm evidence that APOE plays an important role in obesity development in the Roma population.</p

Pharmacogenetic distinction of the Croatian population from the European average

Aim To compare the Croatian and European population in terms of allele frequencies of clinically relevant polymorphisms in drug absorption, distribution, metabolism, and excretion (ADME) genes. Methods In 429 Croatian participants, we genotyped 27 loci in 20 ADME genes. The obtained frequencies were merged with the published frequencies for the Croatian population by sample size weighting. The study sample obtained in this way was compared with the average data for the European population from the gnomAD database. Results Variant allele frequencies in the Croatian population were higher in three and lower in two polymorphisms (Benjamini-Hochberg-corrected P values: 0.0027 for CYP2B6*4 rs2279343, CYP2C9*2 rs1799853, and VKORC1 rs9923231; 0.0297 for GSTP1 rs1695; 0.0455 for CYP2A6 rs1801272) compared with the European population. The most marked difference was observed for CYP2B6*4 (9.3% in Europe vs 24.3% in Croatia). The most clinically relevant findings were higher variant allele frequencies in two polymorphisms related to lower warfarin requirements: VKORC1*2 (34.9% in Europe vs 40.1% in Croatia) and CYP2C9*2 (12.3% in Europe vs 14.7% in Croatia). This indicates that three-quarters of Croatian people have at least one variant allele at these loci. Variants in genes GSTP1 and CYP2A6 were significantly less frequently observed in Croatia. Conclusions Croatian population has a higher bleeding and over-anticoagulation risk, which is why we recommend the prescription of lower doses of anticoagulation drugs such as warfarin and acenocoumarol. Lower phenytoin, and higher bupropion and efavirenz doses are also recommended in the Croatian population

Inbreeding and osteoporosis in Croatian island isolates

The aim of this study was to investigate a recessive genetic component in susceptibility to osteoporosis (OP) by comparing its prevalence in isolated villages of three Croatian islands: Brač, Hvar and Korčula with different levels of inbreeding. A random sample of 20-30% adults from 14 villages was obtained, including a total of 1, 389 examinees. The average inbreeding coefficient (F) of examinees from each village population was estimated using Wright's path method (based on genealogical information), isonymy data and average deviation from Hardy-Weinberg expectations for classic set of serogenetic polymorphisms. The variation in environmental, cultural and socio-economic factors between villages was investigated and shown to be minimal. The morphometry of the metacarpal bones was performed on hand-wrist radiographs of both hands in all examinees. OP was defined as values of cortical index smaller than 2 standard deviations based on distribution of values in examinees of the same sex under 45 years of age. Mean values of cortical index (CI) and prevalence of OP (both standardized by age and weighted for the sample size) in each village were correlated to the mean inbreeding coefficient (F). The coefficient of correlation (r) between F values and CI was -0.28 in males (p=0.08) and -0.42 in females (p=0.005), and between F and OP prevalence 0.32 in males (p<0.001) and 0.43 in females (p<0.001). These results indicate a trend of increased susceptibility to osteoporosis with increasing level of inbreeding in isolated communities of Croatian islands

Supplementary data for article: Marković, V.; Janićijević, A.; Stanojković, T.; Kolundzija, B.; Sladić, D.; Vujčić, M.; Janović, B.; Joksović, L.; Djurdjevic, P. T.; Todorović, N.; et al. Synthesis, Cytotoxic Activity and DNA-Interaction Studies of Novel Anthraquinone-Thiosemicarbazones with Tautomerizable Methylene Group. European Journal of Medicinal Chemistry 2013, 64, 228–238. https://doi.org/10.1016/j.ejmech.2013.03.071

Supplementary material for: [https://doi.org/10.1016/j.ejmech.2013.03.071]Related to published version: [http://cherry.chem.bg.ac.rs/handle/123456789/1370

Body Mass Index and Nutritional Status of the Bayash Roma from Eastern Croatia

This study examines anthropometrically assessed nutritional status of the Bayash, the Roma population from the eastern Croatian region of Baranya, and compares it to the non-Roma general population of eastern Croatia. The analysis of nutritional status and diets is a segment of multidisciplinary anthropological and epidemiological survey of the Roma minority population in Croatia began in 2005. The Bayash are an ethnic group that arrived to Croatia from Romania most likely in the 19th century and speaks a distinct archaic dialect of the Romanian language. The Roma population of Baranya approximates 1,000 according to the 2001 census. The Bayash sample comprised 227 adults aged 18–65 yrs. The women fall below the Croatian 10th percentile for stature and men track about the 10th percentile. Both sexes approximate the 25th percentile for body weight. Despite their diminutive size, the Bayash appear to have adequate nutritional status until the age of 35 yrs after which their average BMI exceeds the value of 25 kg/m2 and falls in the overweight category. However, 8% of Bayash are underweight (BMI<18.5) in contrast to 1% of the majority population in the region. Underweight rates are especially high in women (11%) compared to men (4%). The prevalence of overweight (BMI 25.0 to 29.9) of 30% is considerably lower than in the majority population (42%) while the prevalence of obesity (BMI>or=30.0) of 23% is approximately equal. Overall unsatisfactory nutritional status of the Bayash merits attention. It appears to be the product of unhealthy dietary habits and their socio-economic deprivation that resulted from their poor education and extremely high unemployment

Holistic anthropological research of Hvar islanders, Croatia: from parish registries to DNA studies in 33 years

The complexity of interactions between hereditary, environmental and cultural factors in determining human phenotypes is often underestimated in biomedical research. It can be most clearly demonstrated when a well-defined human isolate population is considered and multiple measurements of phenotypes, genetic characteristics and studies of environmental and cultural determinants are performed and analysed. Even in such small communities, where decreased variability in all those factors is presumed, it is often apparent how difficult it is to disentangle the effects of separate interacting factors and explain most of the variance in phenotypes of interest. In this paper, we present 33 years of holistic anthropological research that was being conducted since 1971 in the island of Hvar, Croatia. During this period, detailed characterisation of migrations, demography, isonymy, linguistic differences, anthropometric traits (head and body dimensions), physiological (cardiorespiratory) properties, quantitative and qualitative dermatoglyphic traits, radiogrammetric metacarpal bone dimensions and genetic traits (erythrocyte antigens, HLA diversity, DNA short tandem repeat (STR), mitochondrial DNA and Y-chromosome polymorphysms) was performed. The analysis of this large collection of data using both model-bound and model-free approaches showed that the complexity underlying human biological traits may be considerably greater than generally assumed, which has important implications for design of future studies into genetic determinants of complex traits

Traditional CVD Risk Factors and Socio-Economic Deprivation in Roma Minority Population of Croatia

Researches into health inequalities consistently show disadvantages in health status, morbidity and mortality for various ethnic minority groups. Current knowledge about prevention of cardiovascular diseases (CVD) mainly derives from studies carried out in populations of European origin while the evidences involving Roma population are scarce. Roma, an ethnic minority of northern Indian origin, live in many countries throughout the world and are well known for preserved traditions and resistance to assimilation. They are most often marginalized economically, spatially, politically and in terms of culture. In order to assess the health status and health-related lifestyle attributes, a multidisciplinary anthropological and epidemiological community-based study was carried out including a total of 423 members of the Bayash Roma minority population living in two regions of Croatia (144 men and 279 women, aged 18–84 yrs). Hypertension (HT) was found in 24.8% Bayash Roma (21.5% men and 26.5% women) using standard diagnostic criteria (i.e. BP 140/90 mm Hg or taking antihypertensive therapy). The prevalence increases from 5.9% in the age group 18–34 yrs; 35.0% in the age group 35–64 yrs and 51.4% in the age group 65+ yrs. The prevalence of hypertension in the Bayash Roma is almost half of the magnitude of what is usually reported for the general population of Croatia. It is also lower when compared with other European populations and this finding is not due to comparative younger average age of the Bayash sample. The significant association of hypertension with age and BMI was confirmed in this study and the importance of non-traditional SES-related CVD risk factors was highlighted. Smoking is a part of traditional Roma life-style and with 70% of smokers almost the entire population is equally exposed to this risk factor in their family environment. Since homogenously distributed, this risk factor did not show to be a significant predictor of hypertension. The extent to which hypertension is influenced by traditional CVD risk factors as well as by some SES indicators was also assessed using a forward stepwise method of the multivariate logistic analysis. Each risk factor was explored as quantitative variable as well as qualitative one using various cut-offs. The best model showed to be the one having age and BMI presented as quantitative variables and sex, region, smoking status, income and schooling years as categorical ones; with cut-off 3 for number of income sources and 8 for the number of schooling years. In spite of the low prevalence of hypertension, the presented results are showing that Bayash Roma are bearing a high CVD risk factors load. We expect that with westernization of their life-style and along with increase of the economic power, the proportion of CVD in population of Bayash Roma will also increase. Therefore, it is important to recognize the need for early cardiovascular disease risk factors prevention in this minority population

Frequencies of mtDNA haplogroups in Southeastern Europe: Croatians, Bosnians and Herzegovinianas, Serbians, Macedonians and Macedonian Romani

Mitochondrial DNA polymorphisms were analyzed in of 1,610 randomly chosen adult men from 11 different regions from southeastern Europe (Croatians, Bosnians and Herzegovinians, Serbians, Macedonians and Macedonian Romani). MtDNA HVS-I region together with RFLP sites diagnostic for main Euroasian and African mtDNA haplogroups were typed to determine haplogroup frequency distribution. The most frequent haplogroup in studied populations was H with the exception of Macedonian Romani among whom the most frequent were South Asian (Indian) specific variants of haplogroup M. The multidimensional scaling plot showed two clusters of populations and two outliers (Macedonian Romani and the most distant from mainland Croatian island of Korčula). The first cluster was formed by populations from three Croatian islands (Hvar, Krk and Brač) and the second cluster was formed by Macedonians, Serbians, Croatians from mainland and coast, Herzegovinians, Bosnians, Slovenians, Poles and Russians. The present analysis does not address a precise evaluation of phylogenetic relations of studied populations although some conclusions about historical migrations could be noticed. More extended conclusions will be possible after deeper phylogenetic and statistical analyses