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Association of polymorphisms in the FOXO1 and UCP3 genes with nonalcoholic fatty liver disease in Chinese children


The human protein encoded by the FOXO1 gene functions as a transcription factor of insulin signaling key genes. Human uncoupling proteins 3 (UCP3) are mitochondrial proteins that are involved in the control of energy metabolism and the pathophysiology of obesity. In this study we investigated the role of genetic variation in the FOXO1 and UCP3 gene in susceptibility to non-alcoholic fatty liver disease (NAFLD) and relevant metabolic traits.


We genotyped nine single nucleotide polymorphisms (SNPs) for association analyses in children (250 patients with NAFLD, 111 patients with metabolic sydrome, 146 with obese and 200 controls). Body mass index (BMI), waist and hip circumference, blood pressure, fasting blood glucose (FBG), insulin (FIN), lipid profiles were measured and performed B-ultrasound examination in all the subjects.


In the NAFLD group, FOXO1A and UCP3 allele were significantly more frequent in both association studies. There was a significant difference in the overall distribution of the genotype frequencies (UCP3 rs11235972, rs6195, rs1800849), (FOXO1 rs2721068), and there was a significant difference (P = 0.0298, 0.0191) in the distribution of the haplotype (UCP3 rs11235972, UCP3 rs1800849), might be good NAFLD markers.


In conclusion, our study suggests a effect of UCP3 haplotype on NAFLD development and relevant intermediate phenotypes which predispose for NAFLD.

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Correspondence to Yan-ping Xu.

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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Xu, Yp., Liang, L. & Wang, Cl. Association of polymorphisms in the FOXO1 and UCP3 genes with nonalcoholic fatty liver disease in Chinese children. Int J Pediatr Endocrinol 2013, O37 (2013).

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  • Obesity
  • Insulin Signaling
  • Fast Blood Glucose
  • Mitochondrial Protein
  • Fatty Liver Disease