Familial hypercholesterolemia (FH) is one of the most common monogenic diseases, leading to an increased risk of premature atherosclerosis and its cardiovascular complications due to its effect on plasma cholesterol levels. Variants of three genes (LDL-R, APOB and PCSK9) are the major causes of FH, but in some probands, the FH phenotype is associated with variants of other genes. Alternatively, the typical clinical picture of FH can result from the accumulation of common cholesterol-increasing alleles (polygenic FH). Although the Czech Republic is one of the most successful countries with respect to FH detection, approximately 80% of FH patients remain undiagnosed. The opportunities for international collaboration and experience sharing within international programs (e.g., EAS FHSC, ScreenPro FH, etc.) will improve the detection of FH patients in the future and enable even more accessible and accurate genetic diagnostics.

• Klíčová slova
• epidemiology, familial hypercholesterolemia, gene score, polygenic FH, variants,
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Obesity is a disease that affects about 13 % of the world population (2016) (Who 2018). This condition generates a process of systemic inflammation that may contribute to the release of cell-free DNA (cfDNA) into the bloodstream. cfDNA has been considered a potential biomarker to monitor several physiological and pathological conditions, such as tumors, exercise intensity and obesity. Therefore, the objective of this study was to evaluate the association of cfDNA levels with the amount of weight and fat mass lost six months after bariatric surgery. Thirty-eight subjects classified as obese (BMI, 43.5+/-6.2; BFP, 46.6+/-4.8) were evaluated anthropometrically and underwent bariatric surgery. Weight, BMI, body fat percentage (BFP), waist circumference, C-Reactive Protein (CRP) and cfDNA levels were evaluated before and six months after surgery; furthermore, a correlation was performed between cfDNA levels and BFP and CRP. Decrease in total body weight and CRP were observed after bariatric surgery; however, the cfDNA levels remained unchanged. There was a weak correlation between cfDNA levels and BFP before the bariatric surgery, and a moderate correlation between cfDNA and CRP. Obese subjects who underwent bariatric surgery, the decrease in body fat percentage did not result in changes in cfDNA levels six months after surgery.

• MeSH
• antropometrie metody   MeSH
• bariatrická chirurgie metody   MeSH
• biologické markery krev   MeSH
• C-reaktivní protein analýza   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• obezita krev   diagnóza   genetika   chirurgie   MeSH
• volné cirkulující nukleové kyseliny krev   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• biologické markery MeSH
• C-reaktivní protein MeSH
• volné cirkulující nukleové kyseliny MeSH

BACKGROUND This study was carried out to determine the relationship between the common TMEM-18 (rs4854344, G>T) and NYD-SP18 (rs6971091, G>A) gene variants and weight loss after lifestyle interventions (increased physical activity in conjunction with optimal dietary intake) in overweight/obese children/adolescents. MATERIAL AND METHODS We genotyped 684 unrelated, white, non-diabetic children (age 12.7±2.1 years, average BMI at baseline 30.66±4.80 kg/m²). Anthropometric and biochemical examinations were performed before and after 4 weeks of an intensive lifestyle intervention. RESULTS The mean weight loss achieved was 5.20±2.02 kg (P<0.001). NYDSP-18 AA homozygotes had significantly higher abdominal skinfold value before and after the intervention (both, P=0.001). No significant associations between BMI decrease and the NYD-SP18 and TMEM18 variants were found. Associations between all anthropometrical and biochemical changes and genes remained non-significant after data were adjusted for sex, age, and baseline values. CONCLUSIONS Decreased body weight in overweight/obese children is not significantly influenced by the NYD-SP18 rs6971091 or TMEM18 rs4854344 polymorphisms.

• MeSH
• adipozita genetika   MeSH
• cvičení MeSH
• dítě MeSH
• genotyp MeSH
• hmotnostní úbytek genetika   MeSH
• index tělesné hmotnosti MeSH
• jaderné proteiny genetika   metabolismus   MeSH
• jednonukleotidový polymorfismus MeSH
• lidé MeSH
• membránové proteiny genetika   metabolismus   MeSH
• mladiství MeSH
• nadváha genetika   MeSH
• obezita genetika   MeSH
• tělesná hmotnost genetika   MeSH
• životní styl MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• FAM71F1 protein, human MeSH Prohlížeč
• jaderné proteiny MeSH
• membránové proteiny MeSH
• TMEM18 protein, human MeSH Prohlížeč

AIM: To replicate the finding that the polymorphism rs6971091 within the NYD-SP18 gene is associated with body mass index (BMI). METHOD: We analysed data of 29,284 adults (46.2% of males, mean age 58.9 (SD 7.3), mean BMI 28.6 (5.0 kg/m2)) examined within the Health Alcohol and Psychosocial Factors in Eastern Europe study in the Czech Republic, Poland, Lithuania and Russia. RESULTS: BMI did not differ by rs6971091 genotype. In men, the mean BMI (SEs) in GG, GA and AA carriers were 27.8 (0.05), 27.9 (0.06) and 27.9 (0.14) kg/m2, respectively, (p = 0.26); in women, the corresponding values were 29.2 (0.06), 29.1 (0.07) and 29.1 (0.16), p = 0.57. In Czech subjects (n = 6,752), for whom the FTO rs17817449 genotype was available, there was no interaction between the NYD-SP18 and FTO polymorphisms in determination of BMI. Adjustment for age, energy and fat intake and physical activity did not materially change the results. There was no association of the NYD-SP18 genotype with waist-hip ratio. CONCLUSION: This study in a large Slavonic population sample suggests that the rs6971091 variant within the NYD-SP18 gene is not an important determinant of obesity in middle-aged persons.

• MeSH
• alely MeSH
• frekvence genu MeSH
• gen pro FTO genetika   metabolismus   MeSH
• genetická predispozice k nemoci MeSH
• genetické asociační studie MeSH
• index tělesné hmotnosti MeSH
• jaderné proteiny genetika   metabolismus   MeSH
• jednonukleotidový polymorfismus * MeSH
• kohortové studie MeSH
• lidé středního věku MeSH
• lidé MeSH
• nadváha krev   genetika   metabolismus   MeSH
• obezita krev   genetika   metabolismus   MeSH
• poměr pasu a boků MeSH
• registrace MeSH
• reprodukovatelnost výsledků MeSH
• senioři MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH
• Geografické názvy
• Česká republika MeSH
• Litva MeSH
• Polsko MeSH
• Rusko MeSH
• Názvy látek
• FAM71F1 protein, human MeSH Prohlížeč
• FTO protein, human MeSH Prohlížeč
• gen pro FTO MeSH
• jaderné proteiny MeSH

The FTO gene variants are the most important genetic determinants of body weight and obesity known so far, but the mechanism of their effect remains unclear. We have analyzed FTO rs17817449 variant (G>T in first intron) in 6024 adults aged 45-69 years to assess the potential mediating role of diet and physical activity. Diet was assessed by a 140-item food frequency questionnaire. Physical activity was measured by hours spent during a typical week by sport, walking and other activities outside of work requiring heavy and medium physical activity. Basal metabolic rate was calculated according Schofield formula. The FTO variant was significantly associated with body mass index (means in GG, GT and TT carriers were 28.7, 28.2 and 27.8 kg/m(2), p<0.001) and basal metabolic rate (BMR) (means in GG, GT and TT were 1603, 1588 and 1576 kcal per day, respectively, p<0.008) but it was not associated with physical activity, total energy intake or with energy intakes from fat, carbohydrates, proteins or alcohol. Results were essentially similar in men and women and the adjustment for physical activity or dietary energy intake did not reduce the effect of the FTO polymorphism. Means of BMR per kg of body weight was lowest in GG carriers (20.09, 20.21 for GT and 20.30 for TT, p<0.006) and this effect was more pronounced in females. These results suggest that the effect of the FTO rs17817449 variant on BMI in Caucasian adults is not mediated by energy intake or physical activity, but some effect on BMR per kg of body weight is possible.

• MeSH
• bazální metabolismus genetika   MeSH
• běloši genetika   MeSH
• cvičení * MeSH
• energetický příjem genetika   MeSH
• gen pro FTO MeSH
• index tělesné hmotnosti MeSH
• jednonukleotidový polymorfismus * MeSH
• lidé středního věku MeSH
• lidé MeSH
• proteiny genetika   MeSH
• složení těla genetika   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH
• Názvy látek
• FTO protein, human MeSH Prohlížeč
• gen pro FTO MeSH
• proteiny MeSH