Ivan Bernasovský

Association of the FTO rs9939609 polymorphism with obesity in Roma/Gypsy population

The rs9939609 SNP located in the first intron of the fat mass and obesity associated gene (FTO) has been found to be associated with common obesity mainly in populations of European descent. The Roma/Gypsy population as an ethnic minority of Asian Indian origin is well known for its adverse health status with a high prevalence of obesity. The main aim of this study was to examine the contribution of the rs9939609 FTO polymorphism to the high prevalence of obesity in the Roma/Gypsy population. Following a number of anthropometric measurements, the FTO rs9939609 polymorphism was genotyped in 312 Roma/Gypsy individuals. We observed significant differences in body mass index (BMI), waist circumference, and waist-to-hip ratio between different genotypes (P = 0.003, P = 0.012, and P = 0.03, respectively). The waist circumference in the subjects with AA genotype was about 7.1 cm larger than in those with TT genotypes (P = 0.005). However, the strongest association of minor allele A of the rs9939609 FTO polymorphism was found with BMI (odds ratio, 1.55; 95% confidence interval, 1.129-2.128; P = 0.007), even after adjusting for age, sex, and smoking status. This study provides the first report of allele and genotype frequencies for the rs9939609 polymorphism and also the first evidence of the association of the FTO variant with obesity in the Roma/Gypsy population.

Allele frequencies and population data for 11 Y-chromosome STRs in samples from Eastern Slovakia

Haplotype data of 11 Y-STR loci (DYS391, DYS389I, DYS439, DYS389II, DYS438, DYS437, DYS19, DYS392, DYS393, DYS390 and DYS385) was obtained from 629 Slovak Caucasian men living in Eastern Slovakia. A total of 474 haplotypes were identified, of which 395 were unique. The haplotype diversity value was 0.9982. Pairwise haplotype distances showed that the Eastern Slovak Caucasian population is not significantly different from the Slavs populations and is separated from the Balkan nations and the German speaking populations.

Genetic variation analysis of 15 autosomal STR loci in Eastern Slovak Caucasian and Romany (Gypsy) population

The genotype polymorphism studies were carried out on two different populations: Eastern Slovak Caucasian (138) and Romany (Gypsy) (138), both from the town of Presov, at 15 highly polymorphic short tandem repeats (STRs) loci. The selected kit PowerPlex 16 system (Promega) included amelogenin, two penta-nucleotide repeats and 13 tetra-nucleotide repeats. The comparison of the allele frequencies between Eastern Slovak Caucasians and Romanies has shown significant differences in the majority of the focused loci. The P-values of exact test for Hardy-Weinberg equilibrium probabilities, observed and expected heterozygosity, matching probability, power of discrimination and exclusion, polymorphic information content, typical paternity index, genetic diversity and the other population-genetic indices were calculated.

Unique frequencies of HFE gene variants in Roma/Gypsies

The aim of this study was to assess the frequencies of three hemochromatosis gene (HFE) mutations in ethnic Roma/Gypsies in Slovakia. A cohort of 367 individuals representing general population and not preselected for health status was genotyped by TaqMan real-time PCR assay for C282Y, H63D and S65C mutations in HFE gene. A unique genetic profile was revealed: C282Y is found in the highest frequency of all Central European countries (4.90%), while the frequency of H63D mutation (4.09%) is lower than any reported in Europe so far. S65C mutation was not present in the cohort. These mutation frequencies can be explained rather by gene influx and genetic isolation than by genetic inheritance from a former Roma/Gypsy homeland.

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.

Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy

Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN5A gene lead to decreased Na+ current and ion unbalance. The SCN5A gene mutations are found in approximately 2% of patients with dilated cardiomyopathy (DCM), and they may be potential phenotype modifiers in hypertrophic cardiomyopathy (HCM). The role of SCN5A gene mutations in cardiomyopathy is not fully elucidated.

Hemochromatosis gene mutations in the general population of Slovakia

This is an epidemiologic study of the Slovak population with the aim of determining the frequencies of three hemochromatosis gene (HFE) variants C282Y, H63D and S65C known to be associated with manifestation of hereditary hemochromatosis and to assess deviations of these frequencies from those reported elsewhere. Mutations were detected in 359 ethnic Slovaks by real-time PCR assay based on TaqMan technology. The allelic frequencies were 4.03% for C282Y, 12.67% for H63D and 1.25% for S65C mutation. We observed 0.28% of C282Y/C282Y homozygotes, 3.34% H63D/H63D homozygotes, 0.84% of C282Y/H63D compound heterozygotes and 0.56% of H63D/S65C compound heterozygotes. This is the first time the frequencies of H63D and S65C mutations have been reported in the general population in Slovakia. The observed allelic frequencies are consistent with the previous studies of Slavic and Central European populations.

Constitutional Translocation t(11,22) in Slovak Romanies from the Prešov Region (Slovakia)

Abstract Three families with constitutional translocation t(11,22) with family occurence in balanced and unbalanced form was detected in Slovac Romanies from the Prešov region in 1990-2004. In probands and individual members of families variable fenotypical picture with different degree of mental retardation was detected. Cytogenetic examination of newborns with multiply development anomalies disclose their causal reason. It has its importance for prognosis of clinical course as well as for genetic counselling in this family. Detection of constitutional translocation t(11,22) in Romany population is part of population-genetic analysis of Romany ethnic.

Relationship between A163G osteoprotegerin gene polymorphism and other osteoporosis parameters in Roma and non‐Roma postmenopausal women in eastern Slovakia

The study was focused on evaluating the possible correlation between biochemical, anthropometric, and genetic indicators of osteoporosis in postmenopausal women. The frequency of genotypes and differences in measured parameters were evaluated within two ethnically different groups of women in Slovakia.

Detection of Philadelphia Chromosome in Patients with Chronic Myeloid Leukemia from the Prešov Region in Slovakia (1995-2004)

Abstract The present paper reports the cytogenetic examinations on detection of Philadelphia chromosome performed in patients with CML in the Prešov region in 1995-2004. The results of cytogenetic examinations on 72 samples of bone marrow cells in pacients with suspected diagnosis of CML have been analyzed.. Philadelphia chromosome in bone marrow cells of patients with suspected diagnosis CML in the Prešov region (1995-2004) was detected in 944% of cases. In one patient a complex translocation involing chromosomes 8 9 and 22 was identified. One patient has showed extra numerical and structural chromosomal aberrations. Mosaic karyotype of the Ph chromosome was found in 59% of cases. The results of cytogenetic analyses confirm diagnostic and prognostic significance of Philadelphia chromosome in patients with clinical diagnosis CML. Conventional cytogenetic analysis remain the standard method for purposes of diagnosis monitoring of the therapeutic response and minimal residual disease in patients with chronic myeloid leukemia.