The Frequent Adiponutrin (PNPLA3)‎ Variant p.Ile148Met Is Associated with Early Liver Injury: Analysis of a German Pediatric Cohort

Abstract EN

Introduction.

The common adiponutrin (PNPLA3) variant p.Ile148Met is associated with liver injury.

Here, we investigate the association of this polymorphism with hepatic and metabolic traits in a pediatric cohort.

Patients and Methods.

The study cohort comprised 142 German children (age 5–9 years, 98 overweight, 19 children with NAFLD).

Results.

Overweight children presented with increased serum ALT ( P = 0.001 ) and GGT ( P < 0.001 ) activities.

ALT activities differed significantly ( P = 0.02 ) between carriers of different PNPLA3 genotypes in the entire study cohort, in normal weight children ( P = 0.02 ) and in children younger than 7 years ( P = 0.02 ).

Carriers of the prosteatotic PNPLA3 genotype p.148Met/Met displayed higher ALT activities as compared to children with the frequent genotype p.148Ile/Ile ( P = 0.01 ).

The BMI was however a stronger predictor of ALT activities compared to the PNPLA3 genotype ( P < 0.001 and P = 0.06 , resp.).

The variant was associated with increased serum glucose levels ( P = 0.01 ) and HOMA index ( P = 0.02 ) in carriers of the p.148Ile/Met genotype but did not affect other metabolic traits or the presence of NAFLD.

Discussion.

The frequent PNPLA3 variant p.Ile148Met is associated with serum ALT activities already at a young age.