Daniela Siváková

Y-STR variation among Slavs: evidence for the Slavic homeland in the middle Dnieper basin

AbstractA set of 18 Y-chromosomal microsatellite loci was analysed in 568 males from Poland, Slovakia and three regions of Belarus. The results were compared to data available for 2,937 Y chromosome samples from 20 other Slavic populations. Lack of relationship between linguistic, geographic and historical relations between Slavic populations and Y-short tandem repeat (STR) haplotype distribution was observed. Two genetically distant groups of Slavic populations were revealed: one encompassing all Western-Slavic, Eastern-Slavic, and two Southern-Slavic populations, and one encompassing all remaining Southern Slavs. An analysis of molecular variance (AMOVA) based on Y-chromosomal STRs showed that the variation observed between the two population groups was 4.3%, and was higher than the level of genetic variance among populations within the groups (1.2%). Homogeneity of northern Slavic paternal lineages in Europe was shown to stretch from the Alps to the upper Volga and involve ethnicities speaking completely different branches of Slavic languages. The central position of the population of Ukraine in the network of insignificant AMOVA comparisons, and the lack of traces of significant contribution of ancient tribes inhabiting present-day Poland to the gene pool of Eastern and Southern Slavs, support hypothesis placing the earliest known homeland of Slavs in the middle Dnieper basin.

Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements

Homogeneous Proto-Slavic genetic substrate and/or extensive mixing after World War II were suggested to explain homogeneity of contemporary Polish paternal lineages. Alternatively, Polish local populations might have displayed pre-war genetic heterogeneity owing to genetic drift and/or gene flow with neighbouring populations. Although sharp genetic discontinuity along the political border between Poland and Germany indisputably results from war-mediated resettlements and homogenisation, it remained unknown whether Y-chromosomal diversity in ethnically/linguistically defined populations was clinal or discontinuous before the war. In order to answer these questions and elucidate early Slavic migrations, 1156 individuals from several Slavic and German populations were analysed, including Polish pre-war regional populations and an autochthonous Slavic population from Germany. Y chromosomes were assigned to 39 haplogroups and genotyped for 19 STRs. Genetic distances revealed similar degree of differentiation of Slavic-speaking pre-war populations from German populations irrespective of duration and intensity of contacts with German speakers. Admixture estimates showed minor Slavic paternal ancestry (∼20%) in modern eastern Germans and hardly detectable German paternal ancestry in Slavs neighbouring German populations for centuries. BATWING analysis of isolated Slavic populations revealed that their divergence was preceded by rapid demographic growth, undermining theory that Slavic expansion was primarily linguistic rather than population spread. Polish pre-war regional populations showed within-group heterogeneity and lower STR variation within R-M17 subclades compared with modern populations, which might have been homogenised by war resettlements. Our results suggest that genetic studies on early human history in the Vistula and Oder basins should rely on reconstructed pre-war rather than modern populations.

Power of biomarkers and their relative contributions to metabolic syndrome in Slovak adult women

Background: Metabolic syndrome (MetS) comprises a cluster of risk components which pre-dispose individuals to cardiovascular mortality. Aim: The purpose of this study is to investigate the variability of biochemical and anthropometric characteristics, apolipoprotein E (APOE) and angiotensin converting enzyme (ACE) genes and their contribution to MetS manifestation. Subjects and methods: A total of 438 adult women were recruited from different localities in Slovakia. All data was established by standard anthropometric, biochemical and genetic methods. Results: The logarithm of the ratio of plasma concentration of triglycerides to HDL-cholesterol [log(TG-to-HDL-C)], waist circumference, systolic blood pressure, apolipoprotein A1, glucose and alanin aminotransferase accounted for most of the differences in MetS manifestation. Logistic regression showed that participants with risk values of the atherogenic index log(TG-to-HDL-C) had a 15.62-fold higher risk of MetS compared to those with lower values for this index (95% CI = 8.3–29.1). Women with hyperglycaemia (or formerly diagnosed diabetes mellitus) had an 8.82–times higher risk of MetS (95%CI = 3.22–24.16). Women with hyper-uricaemia had the same risk of MetS incidence as women with abdominal obesity, Exp (B) = 4.05.Hypercholesterolaemia, ACE and APOE genotypes did not influence MetS. Conclusion: MetS may involve many risk factors that can cause serious disorders in multiple organs. However, women with risk values involving plasma atherogenic index log (TG-to-HDL-C) experienced the highest risk of developing MetS.

Association of ACE (I/D) Polymorphism with Metabolic Syndrome and Hypertension in two Ethnic Groups in Slovakia

The objective of this study was to examine the influence of ACE (I/D) genotypes on recognized risk variables for hypertension and Metabolic Syndrome in two ethnic population samples from Slovakia. A total of 150 Romany subjects (68 males and 82 females) and 167 Slovaks (45 males and 122 females) were examined. They were interviewed during a medical examination and they were investigated with respect to a variety of aspects such as medical, anthropometrical and life-style. The studied subjects were defined as hypertensive if the blood pressure was > or = 140/90 mm Hg and Metabolic Syndrome (MS) was defined according to criteria of the National Cholesterol Education Program Adult Treatment Panel III-(NCEP ATPIII). ACE (I/D) polymorphism was subsequently determined by PCR amplification of the ACE gene sequence. In the entire sample, the frequency of the mutant D allele was higher in the Slovak subjects (D = 0.527) than in the Romany subjects (D = 0.447), but the difference was not significant (p = 0.053). Neither the Slovak nor the Romany normotensive and hypertensive subjects differed significantly in the distribution of the three ACE genotypes (Slovak p = 0.169, Romany p = 0.116). In both ethnic samples hypertensive men prevailed (Slovak 51.1% vs. Romany 44.1%). The features of Metabolic Syndrome were identified in both samples; they occurred in 33.3% of Slovak men and 14.8% Slovak women vs. 42.9% of Romany men and 32.4% Romany women. Regression analysis showed no association between ACE genotypes and hypertension nor between ACE genotypes and MS in these Slovak population samples.

ACE insertion/deletion polymorphism and its relationships to the components of metabolic syndrome in elderly Slovaks.

The purpose of this study was to assess clustering of Metabolic Syndrome components in aged Slovaks, and to investigate whether insertion/deletion (I/D) polymorphism of the human angiotensin-converting enzyme (ACE) gene is associated with this syndrome. Data were available from 374 Slovak participants (200 females and 174 males) ranging in age between 60 and 90 years. ACE I/D polymorphism was determined by PCR amplification of the ACE gene sequence. Metabolic Syndrome was diagnosed according to criteria in the NCEP ATP-III. Elderly males and females differ significantly in the prevalence of Metabolic Syndrome (females 45.1%, males 24.8%). The males and females including subjects with and without metabolic syndrome, respectively, did not differ significantly in the three genotype distributions (p = 0.603 and p = 0.247). The allele frequencies (D = 0.5483, I = 0.4517) in the entire sample fell within the Hardy-Weinberg equilibrium. There was no confirmed association between ACE genotype and phenotypic variation in the recognized risk components for Metabolic Syndrome in elderly Slovaks. Among other factors which may induce a difference in Metabolic Syndrome, significant effect was detected for sex, BMI, HDL, TG, glucose and the ApoB/ApoA1 ratio.

Variant in the FTO gene and biomarkers related to health in mature Slovak women.

The purpose of this study was to investigate whether variant (rs178 17449, G/T) in the first intron of the fat mass and obesity-associated gene (FTO) was related to different obesity parameters and blood pressure in mature women from Slovakia. A total of 419 Slovak women (241 premenopausal and 178 postmenopausal) ranging in age from 39 to 65 years were recruited from different parts of Slovakia. The subgroups were categorized based on the WHO (1996) criteria. All participants gave written informed consent for participation in this study. Anthropometric parameters were measured using standard methods. Fat mass was examined by bioimpedance and blood pressure was measured in the morning during the medical examination. Genomic DNA was extracted from blood or saliva samples by the JET-QUICK Tissue DNA spine kit. The FTO variant was determined by PCR and restriction analysis according to the methodology of Hubacek et al. (2008). The obtained data were statistically analyzed by SPSS 17.0 for Windows. The FTO genotype and allele frequencies in the entire sample and in subgroups according to their menopausal and blood pressure status fell within the Hardy-Weinberg equilibrium. In postmenopausal women the FTO (rs178 17449) genotype was significantly associated with systolic blood pressure (SBP) (p = 0.024) in the dominant GG/GT vs.TT model and with diastolic blood pressure (DBP) (p = 0.030) in the recessive GG vs. GT/TT and the additive model (p = 0.043), respectively. In these postmenopausal women regression analysis showed a statistically significant effect of age, BMI and FTO dominant model on SBP, and of BMI on DBP among the other variables capable of inducing blood pressure differences. This study demonstrates that the SNP rs178 17449 in the FTO gene is associated with systolic and diastolic blood pressure but not with BMI and obesity variables, as already replicated in several populations throughout the world.

Bioelectrical Impedance Vector Analysis (BIVA) in Slovak population: application in a clinical sample

The purpose of this study is to provide new data on body composition in the Slovak population, particularly impedance vector components according to sex and age, relevant for bioelectrical impedance vector analysis (BIVA) in a clinical sample. The reference sample consisted of 1543 apparently healthy individuals (1007 females and 536 males), aged from 18 to 92 years and of 60 patients with Parkinson’s disease (PD) (26 females and 34 males), aged from 40 to 81 years. Bioelectrical parameters of resistance (R) and reactance (Xc) were measured with a monofrequency analyser (BIA 101). BIVA was used to analyse tissue electric properties in control subjects and patients with PD. The mean vector position differed significantly between PD patients and healthy controls in males of age subgroups 60–69 years and 70–79 years, respectively. These results were conterminous with significant Hotelling’s T2-test; 60–69 y T2=7.8, P=0.024 and 70–79 y T2=7.6, P=0.026. In the RXc-score graph three patients had values outside the 95% ellipse. Altered tissue electric properties were present in 23.5% of males and 15.4% of females. Distribution of impedance vector components in different age categories of healthy Slovak subjects are relevant to comparative population studies and to clinical practice.

The association of cytochrome P450 1B1 Leu432Val polymorphism with biological markers of health and menopausal symptoms in Slovak midlife women.

ObjectiveIn this study, the CYP1B1 polymorphism was examined in relationship to recognized risk factors for cardiovascular disease. In particular, this study focused on plasma lipid levels, atherogenic indices, and body composition. Furthermore, this polymorphism was analyzed as a predisposing factor for menopausal symptoms among women during midlife, subdivided according to their menopause status. MethodsA total of 399 women aged from 39 to 60 years were examined. They were recruited from the western and middle parts of Slovakia. Participants were interviewed during their medical examination, and they were investigated with respect to a variety of aspects such as anthropometric and medical aspects, and a menopause-specific questionnaire was included. The participants provided a saliva or blood sample for DNA genotyping and a blood sample for biochemical analysis. ResultsThe Leu432Val genotype demonstrated statistically significant associations with triglycerides, with the ratio of total cholesterol to high-density lipoprotein cholesterol, and with the logarithm of the ratio of plasma concentration of triglycerides to high-density lipoprotein cholesterol in women in their reproductive period. The mean values were significantly lower in women carrying the Val/Val genotype. Four atherogenic indices showed a decreasing trend in relationship to the CYP1B1 genotypes in women during their reproductive period (in the following order of magnitude: Leu/Leu + Leu/Val vs Val/Val) and an increasing trend among postmenopausal women in the same order. Furthermore, the Val/Val genotype diminished experiences of bloated stomach, of vaginal dryness in perimenopausal and postmenopausal women, and of palpitations in premenopausal women. ConclusionsThe Leu432Val polymorphism may be associated with the lipid profile in midlife women. Moreover, this polymorphism may influence the risk of some menopausal symptoms.

Comparison of Y-STR polymorphisms in three different Slovak population groups

Eleven Y-chromosomal microsatellite loci included in the Powerplex Y multiplex kit were analyzed in different Slovak population samples: Habans (n = 39), Romanies (n = 100) and Slovak Caucasian (n = 148) individuals, respectively, from different regions of Slovakia. The analysis of molecular variance between populations indicated that 89.27% of the haplotypic variations were found within populations and only 10.72% between populations (Fst = 0.1027; p = 0.0000). The haplotype diversities were ranging from 0.9258 to 0.9978, and indicated a high potential for differentiating between male individuals. The study reports differences in allele frequencies between the Romanies, Habans and Slovak Caucasian men. Selected loci showed that both the Romany and Haban population belonged to endogamous and relatively small founder population groups, which developed in relatively reproductive isolated groups surrounded by the Slovak Caucasian population.

Genetic serum protein markers (HP, TF, GC and PI) in eight Slovakian population samples

Abstract1194 individuals from eight different regions of Slovakia have been typed for haptoglobin (HP) types and for transferrin (TF), group specific component (GC) and alpha-1-antitrypsin (PI) subtypes. Whereas the HP allele frequencies do not show a remarkable regional variability within Slovakia, this could be demonstrated concerning the TF, GC and PI allele frequencies. The reason for these distribution heterogeneities seems to be due to the incomplete panmixia of the Slovakian population by which local variations in the distribution of genetic markers could be maintained.