Aim to conduct an associative search for genetic variants of the ACE (I/D) and PPARGC1a (G/A) genes with nutritional status in children with cystic fibrosis (CF).

Material and Method The main group 39 CF patients (F508del/F508del), the control group 135 healthy children. Nutritional status in CF was determined by bioimpedance measurement. Active cell mass (%) ACM, skeletal muscle mass (%) SMM, fat mass FM (%) were assessed by Z score: -1+1SD (norm), +1.1+2SD, >+3 SD, -1.1–2SD, <-2.1 SD. The study of the ACE and PPARGC1a genes was carried out using PCR and RFLP.

Results The frequency of the ID genotype of ACE in CF is 4 times higher (OR=4.097, p=0.001). The GG genotype of the PPARGC1a gene in CF was recorded 3 times more often than in the control (OR=3.966, p=0.003). In the group of CF patients, the GA genotype of the PPARGC1a gene was associated with reduced ACM rates,% (-1,1–2SD), compared to normal ACM rates,% (-1+1SD) (OR=11.667, p=0.047). The GG genotype occurs significantly more often in the group with low AСM indicators,% (<-2,1 SD) compared to normal AСM,% (-1+1SD) (OR=6.667, p=0.048). The GG genotype (OR=6.667, p=0.048) in CF occurs significantly more often in the group with low ACM rates,% (<-2, 1 SD), compared to the ACM norm,%. GG genotype (OR=5.883, p=0.089) in CF is more often associated with a reduced content of FM.

Conclusions The ID genotype of the ACE gene and the GG genotype of the PPARG gene in CF were more common than in the healthy group. An association of the G allele of the PPARG gene with a low proportion (%) of ACM and FM in children with CF was revealed. At the same time, patients with the GA genotype had a moderate decrease in ACM, while patients with the GG genotype showed a more pronounced decrease.