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Association between rs738409 and rs2896019 single-nucleotide polymorphisms of phospholipase domain-containing protein 3 and susceptibility to nonalcoholic fatty liver disease in Greek children and adolescents

Το τεκμήριο παρέχεται από τον φορέα :
Ελληνική Γαστροεντερολογική Εταιρία   

Αποθετήριο :
Annals of Gastroenterology   

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Association between rs738409 and rs2896019 single-nucleotide polymorphisms of phospholipase domain-containing protein 3 and susceptibility to nonalcoholic fatty liver disease in Greek children and adolescents (EN)
Stasinou, Eleanna
Argyraki, Maria
Lambropoulos, Alexandros
Fotoulaki, Maria
Sotiriadou, Fotini
info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
2022-05-12
Background Several studies have detected a strong association linking rs738409 and rs2896019 polymorphisms in the patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene with hepatic steatosis and steatohepatitis. In the present study we aimed to determine the association of those PNPLA3 variants with nonalcoholic fatty liver disease (NAFLD) susceptibility in obese and nonobese Greek children and adolescents. Methods The study recruited 91 children and adolescents of Greek descent with NAFLD or biopsyproven nonalcoholic steatohepatitis, and 91 healthy subjects of normal weight (control group) with sex distribution similar to the patient group. DNA samples were amplified using polymerase chain reaction with specifically designed primers. Data were analyzed using the statistical software SPSS version 24.0. Results A significant correlation was shown between the rs738409 polymorphism (CG and GG genotypes) and the rs2896019 polymorphism (TG genotype) with the development of hepatic steatosis (P<0.001). The incidences of rs738409 GG, rs738409 CG and rs2896019 TG genotypes were found to be increased in patients with hepatic steatosis (obese and nonobese), but not in obese patients without liver disease. The combined expression of the 2 polymorphisms was associated with a lower age of diagnosis of hepatic steatosis in nonobese patients. Conclusions We confirmed a strong association between the 2 polymorphisms and hepatic steatosis. The association of the rs2896019 single-nucleotide polymorphism with hepatic steatosis in obese and nonobese pediatric patients, and the combined study of both polymorphisms in a pediatric population of Greek origin are described for the first time. Keywords Nonalcoholic fatty liver disease, children, adolescents, single-nucleotide polymorphism, PNPLA3 Ann Gastroenterol 2022; 35 (3): 297-306 (EN)
Αγγλική γλώσσα
Hellenic Society of Gastroenterology (EN)
1792-7463
1108-7471
Annals of Gastroenterology; Volume 35, No 3 (2022); 297 (EN)
Copyright (c) 2022 Annals of Gastroenterology (EN)
Ελληνική Γαστροεντερολογική Εταιρία
Annals of Gastroenterology
Original Articles



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