Body composition in children with cystic fibrosis and its association with polymorphic variants of energy metabolism genes

   Aim: to conduct an associative search for variants of ACE, PPARGC1A, ACTN3, PPARA genes with nutritional status and body composition of children with cystic fibrosis (CF).

   Methods: patients with CF (F508del/F508del) (n = 425) 0 to 18 years old (11,8 ± 3,8 лет) We studied: BMI, and body composition (for children over 5 years old) before and after 1 year of targeted therapy. Was study the percentage ratio (%) of active cellular body mass (ACM), skeletal muscle mass (SMM) and fat mass (FM) by Z-score. Single nucleotide polymorphisms (SNPs) of the ACE gene (rs1799752), of the PPARGC1A gene (rs8192678), of the ACTN3 gene (rs1815739), of the PPARA gene (rs4253778) were tested by PCR and RFLP analysis.

   Results: Dynamics after a 1 year of targeted therapy, body weight in boys significant increased by 5.3 (±2.5) kg, height by 5.7 (±1.7) cm (p < 0,01), in girls by 4.5 (±1.9) kg, height by 4.8 (±1.3) cm (p < 0,01). In boys showed an increase in FM (%) from -0.23 to 0.13 SD (p = 0.04). In girls, the FM (%) increased from -0.15 to 0.08 SD (p = 0.02) and the % SMM decreased from 0.79 to 0.6 SD (p = 0.04). The GA genotype of the PPARGC1A gene tended to have decreased % ACM (-1.1-2 SD) (p=0.071) and very low % ACM (<-2.1 SD) (p = 0.062).

   Conclusion: An analysis of body composition in children with CF showed an increase in the proportion of fat mass after 1 year of taking the targeted drug.

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