Body composition in children with cystic fibrosis and its association with polymorphic variants of energy metabolism genes
T. Y. Maksimycheva,
Yu. L. Melyanovskaya,
M. V. Tarasov,
E. V. Loshkova,
N. V. Balinova,
S. P. Shchelykalina https://doi.org/10.18093/0869-0189-2025-35-2-276-281
Abstract
The aim of this prospective comparative study was to search for variants of ACE, PPARGC1A, ACTN3, PPARA genes associated with nutritional status and body composition of children with cystic fibrosis (CF).
Methods. Patients with CF (F508del/F508del) (n = 425) of 0 to 18 years old (the average age was 11.8 ± 3.8 years) were included in the study to assess their BMI, polymorphic gene variants, and body composition (for children over 5 years old) before and after 1 year of targeted therapy. The percentage (%) of active cellular body mass (ACM), skeletal muscle mass (SMM) and fat mass (FM) were assessed by Z-score. Single nucleotide polymorphisms (SNPs) of the ACE gene (rs1799752), the PPARGC1A gene (rs8192678), the ACTN3 gene (rs1815739), and the PPARA gene (rs4253778) were tested by PCR and RFLP analysis.
Results. After a 1 year of targeted therapy, the body weight in boys significant raised by 5.3 (±2.5) kg, height by 5.7 (±1.7) cm (p < 0.01) and the body weight in girls increased by 4.5 (±1.9) kg, height by 4.8 (±1.3) cm (p < 0.01). The boys showed an raise 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 lowered from 0.79 to 0.6 SD (p = 0.04). The RR genotype of the ACTN3 gene was associated with BMI deficiency (p = 0.048). Patients with 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 targeted therapy. The RR genotype of the ACTN3 gene was associated with BMI deficiency.
Supporting agencies: The work was carried out within the framework of Research No.122032300396-1
About the Authors
T. Y. Maksimycheva
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; State Budgetary Healthcare Institution of the Moscow region “Research Clinical Institute of Childhood”, Healthcare Ministry of Moscow Region; Federal State Budgetary Educational Institution of Additional Professional Education “Russian Medical Academy of Continuous Professional Education”, Ministry of Health of Russian Federation
Russian Federation
Competing Interests:
Russian Federation
Tatyana Y. Maksimycheva, Candidate of Medicine, Senior Researcher, Leading Researcher, Associate Professor
Scientific and Clinical Department of Cystic Fibrosis; Department of Dietetics and Nutrition
115522; ul. Moskvorechye 1; Moscow; 141009; ul. Kominterna 124A, build. 1; Moskovskaya obl., Mytishchi; 123995; ul. Barrikadnaya 2/1; Moscow
tel.: (499) 324-15-01
Scopus ID: 57194199574; РИНЦ ID: 901195
Competing Interests:
The authors have not declared any conflict of interest
Yu. L. Melyanovskaya
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; State Budgetary Healthcare Institution of the Moscow region “Research Clinical Institute of Childhood”, Healthcare Ministry of Moscow Region
Russian Federation
Competing Interests:
Russian Federation
Yuliya L. Melyanovskaya, Candidate of Medicine, Senior Researcher
Scientific and Clinical Department of Cystic Fibrosis
115522; ul. Moskvorechye 1; Moscow; 141009; ul. Kominterna 124A, build. 1; Moskovskaya obl., Mytishchi
tel.: (495) 324-20-24
РИНЦ ID: 963173; Web of Science Researcher ID: K-2145-2018; Scopus ID: 57204720120
Competing Interests:
The authors have not declared any conflict of interest
M. V. Tarasov
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation
Competing Interests:
Russian Federation
Maxim V. Tarasov, Laboratory Research Assistant
Cystic Fibrosis Clinical Research Department
115522; ul. Moskvorechye 1; Moscow
tel.: (495) 111-03-03
Competing Interests:
The authors have not declared any conflict of interest
E. V. Loshkova
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; Federal State Budgetary Educational Institution of Higher Education “Siberian State Medical University” of the Ministry of Health of the Russian Federation
Russian Federation
Competing Interests:
Russian Federation
Elena V. Loshkova, Doctor of Medicine, Associate Professor, Leading Researcher, Associate Professor of the Department
Department of Cystic Fibrosis; Department of Hospital Pediatrics
115522; ul. Moskvorechye 1; Moscow; 634050; Moskovskiy trakt 2; Tomsk
tel.: (495) 324-20-24
Web of Science Researcher ID: S-3698-2016; Scopus Author ID: 23980606400
Competing Interests:
The authors have not declared any conflict of interest
N. V. Balinova
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation
Competing Interests:
Russian Federation
Natalia V. Balinova, Candidate of Biology, Senior Researcher
Laboratory of Genetic Epidemiology
115522; ul. Moskvorechye 1; Moscow
tel.: (495) 324-20-24
РИНЦ ID: 158176; Web of Science Researcher ID: P-9082-2016; Scopus ID: 24460426800
Competing Interests:
The authors have not declared any conflict of interest
S. P. Shchelykalina
Federal State Autonomous Educational Institution of Higher Education “N.I.Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation
Russian Federation
Competing Interests:
Russian Federation
Svetlana P. Shchelykalina, Candidate of Medicine, Associate Professor
Faculty of Medicine and Biology; Department of Cybernetics and Informatics named after S.A. Gasparyan
117997; ul. Ostrovityanova 1; Moscow
tel.: (495) 434-85-46
Web of Science Researcher ID: K-2225-2016, Scopus ID: 56266977600
Competing Interests:
The authors have not declared any conflict of interest
References
1. Soltman S., Hicks R.A., Khan F.N., Kelly A. Body composition in individuals with cystic fibrosis. J. Clin. Transl. Endocrinol. 2021; 26: 100272. DOI: 10.1016/j.jcte.2021.100272.
2. Calella P., Valerio G., Thomas M. et al. Association between body composition and pulmonary function in children and young people with cystic fibrosis. Nutrition. 2018; 48: 73–76. DOI: 10.1016/j.nut.2017.10.026.
3. Calella P., Valerio G., Brodlie M. et al. Cystic fibrosis, body composition, and health outcomes : a systematic review. Nutrition. 2018; 55-56: 1311–1339. DOI: 10.1016/j.nut.2018.03.052.
4. Wilschanski M., Munck A., Carrion E. et al. ESPEN-ESPGHAN-ECFS guideline on nutrition care for cystic fibrosis. Clin. Nutr. 2024; 43 (2): 413–445. DOI: 10.1016/j.clnu.2023.12.017.
5. WHO. Child growth standards. Available at: https://www.who.int/tools/child-growth-standards/software
6. López Cárdenes C.M., Merino Sánchez-Cañete A., Vicente Santamaría S. et al. Effects on growth, weight and body composition after CFTR modulators in children with cystic fibrosis. Pediatr. Pulmonol. 2024; 59 (12): 3632–3640. DOI: 10.1002/ppul.27272.
7. Maksimycheva T.Yu., Kondratyeva E.I. [Bioimpedance analysis (BIA) of body composition in patients with cystic fibrosis]. Voprosy prakticheskoy pediatrii. 2023; 18 (1): 36–42. DOI: 10.20953/1817-7646-2023-1-36-42 (in Russian).
8. Merlo C.A., Boyle M.P. Modifier genes in cystic fibrosis lung disease. J. Lab. Clin. Med. 2003; 141 (4): 237–241. DOI: 10.1067/mlc.2003.29.
9. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration. 2000; 67 (2): 117–133. DOI: 10.1159/000029497.
10. Salvatore F., Scudiero O., Castaldo G. Genotype-phenotype correlation in cystic fibrosis: the role of of modifier genes. Am. J. Med. Genet. 2002; 111 (1): 88–95. DOI: 10.1002/ajmg.10461
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Maksimycheva T.Y., Melyanovskaya Yu.L., Tarasov M.V., Loshkova E.V., Balinova N.V., Shchelykalina S.P. Body composition in children with cystic fibrosis and its association with polymorphic variants of energy metabolism genes. PULMONOLOGIYA. 2025;35(2):276-281. (In Russ.) https://doi.org/10.18093/0869-0189-2025-35-2-276-281
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