ESPE Abstracts (2019) 92 FC4.4

The rs72613567:TA Variant in the Hydroxysteroid 17-beta Dehydrogenase 13 Gene Reduces Liver Damage in Obese Children

Anna Di Sessa, Giuseppina Rosaria Umano, Grazia Cirillo, Pierluigi Marzuillo, Maria Rosaria Arienzo, Marcella Pedulla', Emanuele Miraglia Del Giudice


University Of Campania "Luigi Vanvitelli", Naples, Italy


Background: The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene has been associated with decreased risk of liver damage.

Aims: To investigate the association between the HSD17B13 rs72613567:TA variant and both hepatic steatosis and biochemical markers of liver damage in obese children and to evaluate its potential effect in NAFLD genetic predisposition.

Methods: 684 obese children were genotyped for HSD17B13, patatin-like phospholipase domain containing 3 (PNPLA3) gene, 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 two risk groups (group 1 including subjects carrying up to 3 risk alleles and group 2 including subjects carrying 4-6 risk alleles).

Results: Carriers of the HSD17B13 rare A allele showed lower serum ALT and AST levels than noncarriers, even after adjustments for confounding factors (A carriers ALT means±SD 26.58±18.02, noncarriers 31.83±20.64; P=0.001; A carriers AST means±SD 23.32±8.13, noncarrriers 25.75±9.66; P=0.001). Likewise, these patients showed a lower percentage of hepatic steatosis (carriers 27.1%, noncarriers 72.9%, P=0.0001) and a significant lower PNFI levels than noncarriers (A carriers mean±SD 7.57±2.94, noncarriers 7.99±2.35, P=0.04), even after adjustments for confounding factors (P=0.03).

Similar findings were confirmed in the study population stratified on the basis of the genetic risk score. In fact, both in the group 1 and 2, the patients carrying the HSD17B13 rare A allele presented a statistically significant lower serum ALT levels, PNFI levels, and a lower percentage of liver steatosis compared to noncarriers with the same genetic risk score.

Conclusion: We demonstrated in childhood obesity the protective effect of the rs72613567:TA variant in HSD17B13 gene in reducing liver damage in obese children even regardless of genetic predisposition.

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