Background: The patatin like phospholipase containing domain 3 (PNPLA3) I148M polymorphism has an effect on modulation of estimated glomerular filtration rate (eGFR) in non-obese non-diabetic adults and in children with histologically confirmed Non-Alcoholic Fatty Liver Disease (NAFLD).
Objectives: To explored the impact of PNPLA3 I148M polymorphism on eGFR in obese children with and without NAFLD.
Methods: We genotyped 591 obese patients for PNPLA3 I148M polymorphism. Anthropometrical, biochemical and instrumental data were collected. NAFLD was defined by the presence of ultrasound detected liver steatosis and/or ALT levels >40IU/L.
Results: Patients with NAFLD showed significantly lower eGFR levels compared to subjects without NAFLD. Children with PNPLA3 MM genotype showed lower eGFR levels compared to those with either PNPLA3 IM or II genotypes both in presence and absence of NAFLD. A general linear model for eGFR variance, including gender, duration of obesity, PNPLA3 genotypes, HOMA, BMI-SDS, LDL-C and triglycerides as covariates, was performed both in patients with (model r2 0.29; model P=<0.0001) and without NAFLD (model r2 0.14; model P=<0.0001). It confirmed an inverse association between eGFR and PNPLA3 genotype only in the NAFLD group (p-value of PNPLA3 genotypes=0.03 in patients with and 0.94 in patients without NAFLD).
Conclusions: Children with obesity and PNPLA3 MM genotype show lower eGFR levels compared to other genotypes, with a major effect of this polymorphism in the presence of NAFLD.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology