Genetic associations of obstructive sleep apnoea syndrome in children with obesity
Keywords:
genetic associations, single nucleotide gene variants, obstructive sleep apnea syndrome, obesity, childrenAbstract
Observance of sleep hygiene together with rational nutrition and dosed physical activity contribute to the quality and duration of life. The aim of the study: to determine the contribution of single-nucleotide gene variants associated with the risk of obstructive sleep apnea syndrome in metabolically unhealthy obesity in children. Materials and methods. 52 obese children aged 14-18 years were examined by the method of complete genome sequencing (CeGat, Germany). Results. In the absence of SNV rs2307111 nucleotide substitution of the POC5 gene, the probability of developing obstructive sleep apnea syndrome in MUO increases 5 times (95% CI 1.22 - 20.48), p=0.025. Conclusions: TT SNV rs2307111 РОС5 is highly associated with the presence of MUO and OSAS in children
References
Jebeile H, Kelly AS, O'Malley G, et al. Obesity in children and adolescents: epidemiology, causes, assessment, and management. Lancet Diabetes Endocrinol. 2022 May;10(5):351-365. doi: 10.1016/ S2213-8587(22)00047-X.
Zhang X, Liu J, Ni Y, et al. Global Prevalence of Overweight and Obesity in Children and Adolescents: A Systematic Review and Meta-Analysis. JAMA Pediatr. 2024 Aug 1;178(8):800-813. doi: 10.1001/jamapediatrics.2024.1576
Li X, Wang T, Jin L, et al. Overall Obesity Not Abdominal Obesity Has a Causal Relationship with Obstructive Sleep Apnea in Individual Level Data. Nat Sci Sleep. 2023 Oct 9; 15:785-797. doi: 10.2147/NSS.S422917
Tholen K, Meier M, Kloor J, et al. Persistent OSA in obese children: does body position matter? J Clin Sleep Med. 2021 Feb 1;17(2):227-232. doi: 10.5664/jcsm.8902.
Lee JH, Cho J. Sleep and Obesity. Sleep Med Clin. 2022 Mar;17(1):111-116. doi: 10.1016/j.jsmc.2021.10.009
Williams MJ, Almén MS, Fredriksson R, et al. What model organisms and interactomics can reveal about the genetics of human obesity. Cell Mol Life Sci. 2012 Nov;69(22):3819-34. doi: 10.1007/ s00018-012-1022-5.
Abaturov A., Nikulina A. Predicting metabolically unhealthy obesity in children. Horm Res Paediatr. 2024;97(suppl 3): 495. doi: 10.1159/000541189.
Campos AI, García-Marín LM, Byrne EM, et al. Insights into the aetiology of snoring from observational and genetic investigations in the UK Biobank. Nat Commun. 2020 Feb 14;11(1):817. doi: 10.1038/s41467-020-14625-1.
Abaturov O.Ye., Nikulina A.O. Single-nucleotide variant rs1800139 of the LRP1 gene as a factor in the development of obesity in children. Modern Pediatrics. Ukraine. 2024; 3(139): 10-17. doi: 10.15574/SP.2024.139.10.
Chiu HY, Chen PY, Chuang LP, et al. Diagnostic accuracy of the Berlin questionnaire, STOP-BANG, STOP, and Epworth sleepiness scale in detecting obstructive sleep apnea: A bivariate meta-analysis. Sleep Med Rev. 2017 Dec; 36:57-70. doi: 10.1016/j. smrv.2016.10.004.
Hongshan J, Rong L, Shou-Wei D, et al. Skewer: a fast and accurate adapter trimmer for next-generation sequencing paired-end reads. In BMC Bioinformatics. 2014; 15:182. doi: 10.1186/1471-2105-15-182
Li D, Luo ZY, Chen Y, et al. LRP1 and APOA1 Polymorphisms: Impact on Warfarin International Normalized Ratio-Related Phenotypes. J Cardiovasc Pharmacol. 2020;76(1):71- 76. doi: 10.1097/FJC.0000000000000834
Liu X, Li C, Mou C, et al. dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. Genome Med. 2020;12(1):103. doi:10.1186/s13073-020-00803-9.
Zhou P, Li L, Lin Z, et al. Exploring the Shared Genetic Architecture Between Obstructive Sleep Apnea and Body Mass Index. Nat Sci Sleep. 2024 Jun 7; 16:711-723. doi: 10.2147/NSS.S459136.
Azimzadeh J, Hergert P, Delouvée A, et al. hPOC5 is a centrin-binding protein required for assembly of full-length centrioles. J Cell Biol. 2009 Apr 6;185(1):101-14. doi: 10.1083/ jcb.200808082.
Laporte MH, Gambarotto D, Bertiaux É, et al. Time-series reconstruction of the molecular architecture of human centriole assembly. Cell. 2024 Apr 25;187(9):2158-2174.e19. doi: 10.1016/j. cell.2024.03.025.
Hassan A, Bagu ET, Patten SA, et al. Differential Regulation of POC5 by ERα in Human Normal and Scoliotic Cells. Genes (Basel). 2023 May 19;14(5):1111. doi: 10.3390/genes14051111.
Chen HH, Lu J, Guan YF, et al. Estrogen/ERR-α signaling axis is associated with fiber-type conversion of upper airway muscles in patients with obstructive sleep apnea hypopnea syndrome. Sci Rep. 2016 Jun 2; 6:27088. doi: 10.1038/srep27088
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