ABSTRACT
Objective@#To fully investigate the roles of gene variations associated with lipid metabolism in pediatric non-alcoholic fatty liver disease(NAFLD).@*Methods@#One hundred obese children who were admitted to the gastroenterology department of Shenzhen Children′s Hospital from September 2017 to September 2018 meeting the inclusion criteria were collected.There were 66 males and 34 females aged 8-18 years.Exon sequencing was performed on blood samples from 100 subjects including 39 children with NAFLD(NAFLD group) and 61 healthy obese children(control group). The mutations of genes in lipid metabolism were investigated, and the functions of the variants were further evaluated through PPI analysis and Go term enrichment analysis and software tools which could predicts possible impact on the structure and function of proteins.@*Results@#There were no significant differences between NAFLD and control group in gender and age(all P>0.05). Body mass index(BMI) and waist in the control group were significantly lower than those of NAFLD group(all P<0.000 1). PPI showed that protein microsomal triglyceride transfer protein microsomal triglyceride transfer protein (MTTP), apolipoprotein B (APOB) and Hepatic lipase C (LIPC) were directly interacted.Go analysis showed that the most enriched pathway were triacylglycerol, acylglycerol, neutral lipids, glycerol ether and organo ether (P<0.001). Two variants (chr4: 100504575: G>C, chr4: 100510903: A>G) located in MTTP were significantly differently distributed between 2 groups(all P=0.002), and a potential pathogenic mutation could exist in rs2306986 site.@*Conclusions@#The findings of this study indicate that lipid metabolism plays an important role in NAFLD and rs2306986 in MTTP was associated with higher susceptibility to NAFLD.