A common variant in the PNPLA3 gene is a risk factor for non-alcoholic fatty liver disease in obese Taiwanese children.

Objective: To test the hypothesis that the presence of the PNPLA3 rs738409 G allele would increase the susceptibility of non-alcoholic fatty liver disease (NAFLD) in obese Taiwanese children.

Methods: A total of 520 obese children aged 6-18 years were recruited. Their PNPLA3 rs738409 genotypes-CC, CG, or GG-were detected by the 5'-nuclease assay. The effects of the PNPLA3 rs738409 G allele on pediatric NAFLD were evaluated based on liver ultrasonography findings and mean serum alanine aminotransferase levels in these children.

Results: NAFLD was present in 19.6% of the obese children. In comparison to the subjects with CC alleles, the risk of NAFLD was increased by 2.96-fold (95% CI, 1.57 to 5.59, P = .0008) in the subjects with CG alleles and by 5.84-fold (95% CI, 2.59 to 13.16; P < .0001) in those with GG alleles. Variant PNPLA3 rs738409 genotypes were associated with increases in mean serum alanine aminotransferase level of 4.77 IU/L (P = .0435) in subjects with CG alleles and of 10.86 IU/L (P < .0001) in those with GG alleles compared with subjects with CC alleles.

Conclusions: The variant PNPLA3 rs738409 genotypes increased the risk of NAFLD in our population of obese Taiwanese children. The effect of the G allele on pediatric NAFLD followed a dominant genetic model.