A Common Variant in the PNPLA3 Gene is a Risk Factor for Non-Alcoholic Fatty Liver Disease in Obese Taiwanese Children

作者：Lin Yu Cheng; Chang Pi Feng; Hu Fu Chang; Yang Wei Shiung; Chang Mei Hwei; Ni Yen Hsuan^*

来源：Journal of Pediatrics, 2011, 158(5): 740-744.

DOI：10.1016/j.jpeds.2010.11.016

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.
Study design 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. (J Pediatr 2011; 158: 740-4).

• 出版日期2011-5