SUMMARYBackground: Obesity and overweight are major contributors to the global burden of chronic diseases and disability in both majority and minority populations.Methods: Data from the cross-sectional population-based HepaMeta study conducted in Slovakia in 2011 were used. The sample comprised a total of 452 Roma. Measurements of special bioactive mediators were taken in final groups consisting of 63 male Roma respondents (mean age = 32.59; SD = 8.63) and 117 female Roma respondents (mean age = 34.55; SD = 8.35). Respondents were divided into three groups: those with normal weight, those with overweight and obese. Values for anthropometric parameters, lipids parameters, C-reactive protein, TNF-α, IL-6, leptin, and adiponectin were determined.Results: 27.6% of examined Roma females and 26.9% of males were overweight. Obesity (BMI > 30.0 kg/m 2 ) appeared in a higher proportion of males (28.8%) compared with female (26.5%). Mean levels of total cholesterol, triacylglycerol and LDL-cholesterol were significantly elevated in the overweight and obese subjects compared to normal-weight Roma respondents. The relation was reversed for HDL-C level, with significantly decreased levels in both male and female obese Roma (p < 0.001). The concentration of adiponectin was significantly lower in obese subjects of both genders versus non-obese (Roma male p < 0.001, Roma female p < 0.05). Plasma levels of leptin, IL-6, hs-CRP as well as TNF-α increased in Roma significantly with increasing BMI.Conclusion: The study is the first one to provide data about selected biomarkers. Results may be useful in predicting obesity and its related diseases in the Roma population from the eastern part of Slovakia.

BackgroundInactivating mutations of the hypothalamic transcription factor singleminded1 (SIM1) have been shown as a cause of early-onset severe obesity. However, to date, the contribution of SIM1 mutations to the obesity phenotype has only been studied in a few populations. In this study, we screened the functional regions of SIM1 in severely obese children of Slovak and Moravian descent to determine if genetic variants within SIM1 may influence the development of obesity in these populations.MethodsThe SIM1 promoter region, exons and exon-intron boundaries were sequenced in 126 unrelated obese children and adolescents (2–18 years of age) and 41 adult lean controls of Slovak and Moravian origin. Inclusion criteria for the children and adolescents were a body mass index standard deviation score higher than 2 SD for an appropriate age and sex, and obesity onset at less than 5 years of age. The clinical phenotypes of the SIM1 variant carriers were compared with clinical phenotypes of 4 MC4R variant carriers and with 27 unrelated SIM1 and MC4R mutation negative obese controls that were matched for age and gender.ResultsSeven previously described SIM1 variants and one novel heterozygous variant p.D134N were identified. The novel variant was predicted to be pathogenic by 7 in silico software analyses and is located at a highly conserved position of the SIM1 protein. The p.D134N variant was found in an 18 year old female proband (BMI 44.2kg/m2; +7.5 SD), and in 3 obese family members. Regardless of early onset severe obesity, the proband and her brother (age 16 years) did not fulfill the criteria of metabolic syndrome. Moreover, the variant carriers had significantly lower preferences for high sugar (p = 0.02) and low fat, low carbohydrate, high protein (p = 0.02) foods compared to the obese controls.ConclusionsWe have identified a novel SIM1 variant, p.D134N, in 4 obese individuals from a single pedigree which is also associated with lower preference for certain foods.

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The most common etiology of non-syndromic monogenic obesity are mutations in gene for the Melanocortin-4 receptor (MC485) with variable prevalence in different countries (1.2-6.3 % of obese children). The aim of our study was 1) to search for MC4R mutations in obese children in Slovakia and compare their prevalence with other European countries, and 2) to describe the phenotype of the mutation carriers. DNA analysis by direct Sanger sequencing of the coding exons and intron/exon boundaries of the MC4R gene was performed in 268 unrelated Slovak children and adolescents with body mass index above the 97th percentile for age and sex and obesity onset up to 11 years (mean 4.3±2.8 years). Two different previously described heterozygous loss of function MC4R variants (i.e. p.Ser19Alafs*34, p.Ser127Leu) were identified in two obese probands, and one obese (p.Ser19Alafs*34), and one lean (p.Ser127Leu) adult family relatives. No loss of function variants were found in lean controls. The prevalence of loss-of-function MC4R variants in obese Slovak children was 0.7 %, what is one of the lowest frequencies in Europe.