Ankylosing spondylitis on unidentified individual from early modern times found in reformed church (Silická Brezová, Slovakia): a case-based review.

The grave situated in the central part of the reformed church in Silická Brezová in Slovakia contained the human skeletal remains of one individual. The aim of this study was to confirm the presence of ankylosing spondylitis on these skeletal remains. Determine the sex, age at death, stature, and ancestry of the individual by anthropological methods, and also record and identify other pathological manifestations of diseases. A macroscopic examination has been carried out, with the analysis of the palaeopathological conditions of the remains, and subsequently an X-ray and CT completed analysis. The skeleton belonged to a male of European origin, aged between 45 and 60 years at the time of death. Stature calculated from the maximal length of his femur was 163.12 ± 3.48 cm. Pathological features were identified on the many bones. Ankylosis affected almost the whole spinal cord, including the sacroiliac joints. The skeleton also presented the manifestation of many entheseal changes. Presence of the ankylosing spondylitis was confirmed by a combination of standard anthropological methods and modern diagnostic methods (X-ray and CT analysis). It is a specific disease with a prevalence between 0.1 and 1% worldwide. There is a potential for further genetic research to determine the degree of genetic relatedness with an individual living in this village who has been diagnosed with the same disease.

Oral health status of 6- and 12-year-old children of Roma origin from Eastern Slovakia: a pilot study.

OBJECTIVE: The purpose of this study was to determine the prevalence and clinical effect of untreated dental caries in Roma children from eastern Slovakia using dmft/DMFT index and SiC index, association between dental caries development and oral hygiene, dietary habits and preventive dental care. METHODS: Dental caries were assessed by recording the dmft index (for primary dentition) and the DMFT index (for permanent dentition) that are used to assess the state of teeth, which expresses the current state of teeth or its development in an individual or the entire population. The SiC index was calculated as the mean dmft of one-third of the population with highest caries scores. The normality of data distribution was tested by Shapiro-Wilk test. P-value < 0.05 was considered statistically significant. Chi-square test was used to compare proportions (oral hygiene, dietary habits and preventive dental visit). Data were analysed using ordered logistic regression and t-test. The study includes questionnaire containing 5 questions about dietary habits, oral hygiene and preventive dental visit. RESULTS: The results of presented study confirmed higher average values of DMFT (3.24) in the population of 12-year-old Roma children and lower average values of dmft (2.5) in the second group (p < 0.05). The value of SiC index represented 6.10 in the group of six-year-old and 7.66 in twelve-year-old children. Logistic regression was performed to test the magnitude of the association between dental caries and related factors. There was statistically significant association between average value dmft/DMFT and dietary habits, oral hygiene, and preventive dental visit in both study groups. CONCLUSION: The study revealed insufficient oral hygiene of the Roma children population. Systematic implementation of preventive examinations for oral hygiene and health programmes are needed to promote oral health. The study represents a pilot study of the SiC index values in Roma minority population from eastern Slovakia.

Association between vitamin D receptor gene polymorphisms (Fok I, Cdx-2) and bone mineral density in Slovak postmenopausal women.

Osteoporosis is a skeletal disorder characterized by low bone mass and microarchitectural deterioration of bone tissue with consequent increase in bone fragility and fracture risk. Bone mineral density (BMD), the major determinant of osteoporotic fracture risk, has a particular genetic background. Vitamin D receptor (VDR) is implicated in the regulation of bone mineral density. The present study evaluates the association between Vitamin D receptor gene polymorphisms Fok I (rs2228570), Cdx-2 (rs11568820), bone mineral density and fracture risk in Slovak postmenopausal women. A total of 403 unrelated Slovak postmenopausal women aged 43-86 years were genotyped using TaqMan®SNP Genotyping Assays. Lumbar spine, femoral neck and total hip BMD/T-score were detected by dual energy X-ray absorptiometry (DEXA). We found the Fok I and Cdx-2 polymorphism in the VDR gene to be associated with osteoporotic fractures (non-vertebral fractures: Fok I p = 0.001; Cdx-2 p = 0.0000; all fractures: Fok I p = 0.0001; Cdx-2 p = 0.0000) (Fok I: OR = 0.50, 95% CI = 0.35-0.71; Cdx-2: OR = 0.25, 95% CI = 0.17-0.37). The present data suggest that VDR gene Fok I and Cdx-2 polymorphisms contribute to the determination of BMD in Slovak postmenopausal women and can probably be used with other genetic markers together to identify individuals at high risk of osteoporosis.

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

BACKGROUND: 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. METHODS: The study included 310 postmenopausal women divided into non-Roma and Roma groups. Based on results of densitometry, they were divided into control groups and women with osteoporosis and osteopenia. In all women, a genetic analysis of polymorphism of osteoprotegerin gene promotor region (A163G) was provided along with measurement of indicators of bone tissue metabolism. RESULTS: There is a particularly low incidence of osteoporosis in Roma women. We found a correlation between bone mineral density (BMD), body mass index, and waist and hip circumference in women with osteoporosis and in Roma women with osteopenia. The frequency of the AG genotype was higher in non-Roma women with osteoporosis, but reached only 10.7% in Roma women with osteopenia. While the presence of the G allele in the non-Roma population was accompanied by higher BMD and markers of osteoformation, it was accompanied by significantly higher concentrations of parathyroid hormone in the Roma population. CONCLUSION: The presence of the AG genotype has a different effect on bone metabolism in two ethnically diverse populations of women in Slovakia. In the general population, the presence of the G allele exhibited protective effects consistent with other studies, but in Roma population this appears to be the allele A. However, this requires a further study for confirmation and more detailed characterization of the differences between populations that have this work indicated.

TNFRSF11B gene polymorphisms, bone mineral density, and fractures in Slovak postmenopausal women.

Osteoporosis is a common disease that is characterized by low bone mineral density (BMD), deterioration in bone microarchitecture, and increased fracture risk. Due to its important role in bone biology, the TNFRSF11B gene, coding for OPG, has been considered as a candidate gene for osteoporosis. In this study, single nucleotide polymorphisms (SNPs) A163G, T245G, and G1181C (rs3102735, rs3134069, and rs2073618, respectively) within the TNFRSF11B gene were studied for association with BMD and fracture incidence in a cohort of 327 postmenopausal Slovak women. Genomic DNA was extracted and purified from peripheral blood leukocytes by the commercial kit JetQuick (Genomed GmbH, Germany) using a standard protocol. Genotyping was performed using the Custom TaqMan® SNP Genotyping Assays. The lumbar L1-L4 spine BMD (g/cm(2)) and T-score in the subgroup of Slovak postmenopausal women with osteoporotic fractures were significantly lower than those in the subgroup of women without fracture (p = 0.0025; p = 0.0009). We identified the T245G (rs3134069) polymorphism in the TNFRSF11B gene associated with osteoporotic fractures (vertebral fractures: p = 0.0320; non-vertebral fractures: p = 0.0005; all fractures: 0.0000). The polymorphism T245G (rs3134069) in the TNFRSF11B gene could be used together with other genetic markers to identify individuals at high risk of osteoporotic fractures. The results from the present study provided more evidence to reveal the role of TNFRSF11B gene polymorphisms in BMD and the risk of osteoporotic fractures.

Y-SNP analysis versus Y-haplogroup predictor in the Slovak population.

Human Y-chromosome haplogroups are important markers used mainly in population genetic studies. The haplogroups are defined by several SNPs according to the phylogeny and international nomenclature. The alternative method to estimate the Y-chromosome haplogroups is to predict Y-chromosome haplotypes from a set of Y-STR markers using software for Y-haplogroup prediction. The purpose of this study was to compare the accuracy of three types of Y-haplogroup prediction software and to determine the structure of Slovak population revealed by the Y-chromosome haplogroups. We used a sample of 166 Slovak males in which 12 Y-STR markers were genotyped in our previous study. These results were analyzed by three different software products that predict Y-haplogroups. To estimate the accuracy of these prediction software, Y-haplogroups were determined in the same sample by genotyping Y-chromosome SNPs. Haplogroups were correctly predicted in 98.80% (Whit Athey's Haplogroup Predictor), 97.59% (Jim Cullen's Haplogroup Predictor) and 98.19% (YPredictor by Vadim Urasin 1.5.0) of individuals. The occurrence of errors in Y-chromosome haplogroup prediction suggests that the validation using SNP analysis is appropriate when high accuracy is required. The results of SNP based haplotype determination indicate that 39.15% of the Slovak population belongs to R1a-M198 lineage, which is one of the main European lineages.

The frequency of factor V Leiden and prothrombin G20210A mutations in Slovak and Roma (Gypsy) ethnic group of Eastern Slovakia.

Factor V Leiden and prothrombin G20210A are the two most prevalent causes of inherited thrombophilia. The prevalence of these mutations varies widely in healthy Caucasian population. The aim of our study was to determine the frequency of factor V Leiden and prothrombin G20210A mutations in Slovak and Roma ethnic group from Eastern Slovakia. We analyzed 540 asymptomatic individuals (269 individuals of Slovak ethnicity and 271 individuals of Roma ethnicity) by real-time PCR method. The detected allele frequencies were 2.97 versus 6.64 % for factor V Leiden (p = 0.0049), and 0.74 versus 0.92 % for prothrombin mutation (p = 0.7463) in Slovak and Roma population, respectively. The Roma ethnic group had significantly higher prevalence of factor V Leiden mutation when compared to Slovak ethnic group. The allele frequency of factor V Leiden in ethnic Romanies from Eastern Slovakia was one of the highest in Europe. Our results confirm an uneven geographical and ethnic distribution of factor V Leiden.

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.

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.

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.