[Effect of gene polymorphism of PPARgamma2 regulatory proteins on the metabolic syndrome in children with nonalcoholic fatty liver disease and obesity].
The aim of this study was to investigate the influence of single nucleotide polymorphism Pro12Ala of PPARγ2 gene in phenotypical manifestations, carbohydrate and lipid metabolism, blood pressure (BP) and tumor necrosis factor alpha (TNF-α) in children with exogenous constitutional obesity (ECO) and nonalcoholic fatty liver disease (NAFLD). 67 children aged from 7 to 17 years were examined; among them 34 patients were diagnosed with NAFLD and 33 children with ECO. The algorithm of examination included assessment of anthropometric parameters, blood lipid profile, glucose indicators and immunoreactive insulin (IRI) on an empty stomach, the calculation of the HOMA-IR index, genetic methods of examination. The study of Pro12Ala polymorphism of PPARγ2 gene showed that patients with NAFLD demonstrated the highest percentage in the frequency of the "wild genotype" Pro/Pro (88,2%) and significantly lower prevalence rate in frequency of allele Ala (11,8%). The presence of the polymorphic allele Ala was associated with lower levels of IRI, HOMA-IR index, a significant reduction of virtually all components of lipid metabolism, systolic blood pressure and pro-inflammatory cytokine TNF-α. Children with genotype X/Ala have greater body weight and higher BMI as compared with homozygous carriers of Pro allele. The detected changes allow us to recommend the use of genetic screening to identify single nucleotide polymorphism Pro12Ala of PPARγ2 gene in obese children in order to determine the degree of risk of metabolic disorders development and implement the preventive measures in a timely manner.
D000293:Adolescent; D001794:Blood Pressure / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D024821:Metabolic Syndrome / Q000209:etiology / Q000235:genetics*; D065626:Non-alcoholic Fatty Liver Disease / Q000209:etiology / Q000235:genetics*; D009765:Obesity / Q000150:complications / Q000235:genetics*; D047495:PPAR gamma / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics
D047495:PPAR gamma; D014409:Tumor Necrosis Factor-alpha