Role of genetic modification of the PNPLA3 gene in predicting metabolically unhealthy obesity and metabolic associated fatty liver disease in children

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dc.contributor.authorAbaturov, Aleksandr
dc.contributor.authorNikulina, Anna
dc.date.accessioned2023-03-10T14:59:10Z
dc.date.available2023-03-10T14:59:10Z
dc.date.issued2023-03
dc.descriptionParticipants provided written informed consent, and research protocols and procedures were approved according to the ethical standards of the Helsinki Declaration 2013 and by the Human Research Ethics Committee of Dnipro State Medical University (ethical approval DSMU/EC/19/1107).
dc.description.abstractIntroduction and aim. Single nucleotide variants (SNV) of the patatin‐like phospholipase domain‐containing protein 3 (PNP-LA3) gene play an important role in hepatic lipid remodeling and lipogenesis de novo, which is associated with the development of metabolically unhealthy obesity (MUO) and metabolic associated fatty liver disease (MAFLD). The aim of the study was to define the contribution of SNV PNPLA3 gene to the development of MUO, complicated by MAFLD in children. Material and methods. 200 obese children aged 6-18 years were examined. The main group (n=118) was represented by children with MUO. The control group (n=82) consolidated of children with metabolically healthy obesity (MHO). Whole genome sequencing (CeGat) was performed in 31 children of the main and 21 children of the control group. Results. Among obese children, 14 variants of SNV PNPLA3 (rs139051, rs34179073, rs2294918, rs139047, rs779127153, rs2076212, rs738409, rs738408, rs4823173, rs2072906, rs2076213, rs141106484, rs138736228) were identified, including SNV PNPLA3 g.44322818, not described in the dbSNP core database. The role of the following SNV PNPLA3 genotypes in the development of MUO complicated by MAFLD was revealed: rs738409 C/G (Relative risk (RR)=1.71); rs738408 C/T (RR=1.71); rs4823173 G/A (RR=1.57); rs2072906 A/G (RR=1.57) with Sensitivity (Se)=0.63 and Specificity (Sp)=0.72. Conclusion. The contribution to the development of MUO complicated by MAFLD in children is made by the linked association of genotypes: rs738409 C/G, rs738408 C/T, rs4823173 G/A and rs2072906 A/G out of 14 PNPLA3 SNVs diagnosed by us.eng
dc.description.sponsorshipThe work is a fragment of the research work of the Department of Pediatrics 1 and Medical Genetics of the Dnipro State Medical University “Genotype-associated personalization of diagnostic and treatment process in children with respiratory, endocrine and digestive system” (No 0118U006629),”Prediction of the development of childhood diseases associated with civilization” (No 0120U101324). The study was carried out according to the budget program of the Code of program classification of expenses and crediting 2301020 “Scientific and scientific and technical activities in the field of health care”, funded by the Ministry of Health of Ukraine from the state budget.
dc.identifier.citationEuropean Journal of Clinical and Experimental Medicine T. 21, z. 1 (2023), s. 5-13
dc.identifier.doi10.15584/ejcem.2023.1.1
dc.identifier.eissn2544-1361
dc.identifier.urihttps://repozytorium.ur.edu.pl/handle/item/8787
dc.language.isoeng
dc.publisherPublishing Office of the University of Rzeszow
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 Poland*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/pl/*
dc.subjectchildren
dc.subjectmetabolic associated fatty liver disease
dc.subjectobesity
dc.subjectpatatin‐like phospholipase domain‐containing protein 3
dc.subjectsingle nucleotide variants
dc.titleRole of genetic modification of the PNPLA3 gene in predicting metabolically unhealthy obesity and metabolic associated fatty liver disease in children
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European Journal of Clinical and Experimental Medicine T.21, z. 1 (2023)