The rs72613567: TA Variant in the Hydroxysteroid 17-beta Dehydrogenase 13 Gene Reduces Liver Damage in Obese Children. Issue 3 (March 2020)

• Record Type: Journal Article
• Authors: Di Sessa, Anna; Umano, Giuseppina Rosaria; Cirillo, Grazia; Marzuillo, Pierluigi; Arienzo, Maria Rosaria; Pedullà, Marcella; Miraglia del Giudice, Emanuele
• Is Part Of: Journal of pediatric gastroenterology and nutrition. Volume 70:Issue 3(2020)
• Publication Date: 2020-03
• Subjects: beta dehydrogenase -- children -- damage -- liver -- obese -- steatosis; Children -- Nutrition -- Periodicals; Pediatric gastroenterology -- Periodicals; Infants -- Nutrition -- Periodicals; Nutrition disorders in children -- Periodicals; Child Nutrition -- Periodicals; Digestive System -- growth & development -- Periodicals; Gastrointestinal Diseases -- Periodicals; Infant Nutrition -- Periodicals; Nutrition Disorders -- Periodicals; Child; 618.923
• DOI: 10.1097/MPG.0000000000002573
• Languages: English
• ISSNs: 0277-2116

Abstract

Abstract : ABSTRACT: We first investigated in obese children the protective role of the hydroxysteroid 17-beta dehydrogenase 13 ( HSD17B13) rs72613567:TA variant in liver damage. Six hundred eighty-five obese children were genotyped for HSD17B13, patatin-like phospholipase domain containing 3 ( PNPLA3 ), transmembrane 6 superfamily member 2 ( TM6SF2), and membrane bound O-acyltransferase domain containing 7 ( MBOAT7 ) polymorphisms and underwent anthropometrical, ultrasonographic, and biochemical evaluation. Indirect measurement of liver fibrosis (Pediatric NAFLD Fibrosis Index [PNFI]) was calculated. The population was clustered in 2 genetic risk groups based on the numbers of steatogenic alleles (low: carriers up to 3 risk alleles, high: 4–6 risk alleles). Carriers of the HSD17B13 rare A allele showed lower percentage of hepatic steatosis and both lower serum transaminase and PNFI levels than noncarriers, even after adjustments for confounders. These findings were also confirmed in both risk groups. We demonstrated the protective effect of the rs72613567:TA HSD17B13 variant in reducing liver damage in obese children regardless of genetic predisposition.