Association of ACE and PPARGC1A gene polymorphisms with obesity phenotypes in children in the Russian Federation

BACKGROUND: Certain genes are involved in the regulation of nutrient and energy metabolism. The PPARGC1A and ACE genes, the products of which provide cellular energy metabolism, are actively studied not only in the development of relationships with the physical characteristics of individuals (sports results), but also in relation to pathological changes in the body, as a result of the appearance of metabolic products with altered physicochemical properties and parameters of functional activity, leading to various diseases (obesity, type 2 diabetes, insulin resistance, metabolic syndrome).

AIM: to conduct an associative search for genetic variants of the ACE (I/D) and PPARGC1A (G/A) genes with clinical phenotypes of obesity in children.

MATERIALS AND METHODS: The study included 177 children with obesity and 135 healthy children aged 5 to 18 years. The  following were studied: nutritional status, lipid and carbohydrate metabolism parameters to conduct an associative search for genetic variants of the ACE (I/D) and PPARGC1A (G/A) genes with clinical phenotypes of obesity (OB). Testing of polymorphic variants of the ACE (I/D), PPARGC1A (PGC-1) genes was performed by PCR and RFLP analysis.

RESULTS: In the sample of healthy children, the I/D and I/I genotype of the ACE gene and the A/A and G/A genotypes of the PPARGC1A gene are more common. In patients with obesity, the I/D genotype and the D allele of the ACE gene, and the G/A genotype of the PPARGC1A gene are more common. The G/G genotype and the G allele of the PPARGC1A gene in obesity were associated with metabolic syndrome and hypertriglyceridemia

CONCLUSION: The I/D genotype of the ACE gene was more common in obese patients, but no associations of the genotype with metabolic risks were found. The G/G genotype of the PPARGC1A gene was more common in obese patients and was associated with the risk of developing metabolic disorders and hypertriglyceridemia.

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