Aims: The pathogenic variant, p.GLY428Asp (c.1283G-A), in the epidermal growth factor receptor (EGFR) gene causes neonatal inflammatory skin and bowel disease 2, a disorder that is lethal during infancy due to skin infections and sepsis. This variant seems to be restricted to people of Roma origin with the majority of patients thus far reported being from Slovakia or the Czech Republic. The aim of this study was to establish the frequency of this variant in the Roma population in Slovakia. Methods: A population sample of 1321 unrelated healthy individuals of Roma origin from Slovakia was tested for the p.GLY428Asp variant in EGFR gene by real-time PCR. Results: The carrier frequency in the Roma ethnic group was 2.65%. Conclusions: This is the first report of the frequency of this variant. A high frequency of carriers together with a significant number of patients reported previously proves the p.GLY428Asp variant in the EGFR gene is a major health concern of the Roma populations in Slovakia and neighboring regions.

• Klíčová slova
• EGFR gene, Gypsies, NISBD2, Roma, carrier testing,
• MeSH
• geny erbB-1 MeSH
• kvantitativní polymerázová řetězová reakce MeSH
• lidé MeSH
• novorozenec MeSH
• Romové * genetika   MeSH
• sepse * MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• EGFR protein, human MeSH Prohlížeč

OBJECTIVES: The aim of the study was the evaluation of the rs1107946 polymorphism of the COLIA1 gene impact on bone mineral density and fracture risk in Slovak postmenopausal women. METHODS: One hundred and twenty-seven postmenopausal Slovak women with a diagnosis of osteopenia/osteoporosis were genotyped for rs1107946 polymorphism of the COLIA1 gene. Clinical and anthropometric data were obtained. DNA isolation was performed using a standard protocol. Genetic analyses of the rs1107946 polymorphism of the COLIA1 gene were performed by the TaqMan SNP genotyping assays. RESULTS: The study confirmed a statistically significant relationship using an association analysis between the rs1107946 polymorphism of the COLIA1 gene genotypes and body weight of the Slovak postmenopausal women with osteopenia/osteoporosis (p = 0.03). The study revealed a significant association of the risk T allele of the rs1107946 polymorphism of the COLIA1 gene with osteoporotic fractures (p = 0.038). The odds ratio confirmed 2.060 times higher risk of osteoporotic fractures in Slovak postmenopausal women with the presence of risk T allele of the rs1107946 COLIA1 gene polymorphism (OR = 2.060; 95% CI: 1.024-4.144). CONCLUSION: The results of this study revealed an association of T allele of the rs1107946 COLIA1 gene polymorphism with osteoporotic fractures in Slovak postmenopausal women with osteopenia/osteoporosis and suggest that the rs1107946 polymorphism of the COLIA1 gene may be a molecular biomarker usable in the management of osteoporosis.

• Klíčová slova
• COLIA1 gene - rs1107946 polymorphism, fracture risk, osteoporosis, postmenopausal women,
• MeSH
• genotyp MeSH
• kostní denzita genetika   MeSH
• lidé MeSH
• osteoporotické fraktury * komplikace   MeSH
• osteoporóza * komplikace   genetika   MeSH
• polymorfismus genetický MeSH
• postmenopauza MeSH
• postmenopauzální osteoporóza * genetika   komplikace   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Slovenská republika epidemiologie   MeSH

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.

• Klíčová slova
• SiC index, dental caries, dmft index, permanent dentition, primary dentition,
• MeSH
• dítě MeSH
• DMF Index MeSH
• lidé MeSH
• orální zdraví MeSH
• pilotní projekty MeSH
• prevalence MeSH
• průřezové studie MeSH
• Romové * MeSH
• zubní kaz * epidemiologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Slovenská republika epidemiologie   MeSH