Published online Sep 21, 2013. doi: 10.3748/wjg.v19.i35.5897
Revised: June 18, 2013
Accepted: August 16, 2013
Published online: September 21, 2013
Processing time: 162 Days and 15.9 Hours
AIM: To confirm the hypothesis that polymorphisms of the uncoupling protein 3 (UCP3) gene are associated with the occurrence of nonalcoholic fatty liver disease (NAFLD).
METHODS: A total of 250 NAFLD patients (147 males and 103 females) and 200 healthy individuals who served as controls (control, 109 males and 91 females), aged between 6 and 16 years were enrolled in this study. The four non-synonymous single nucleotide polymorphisms (SNPs) in the UCP3 gene polymorphisms of rs1726745, rs3781907, rs11235972 and rs1800849, were genotyped using MassArray. Body mass index (BMI), waist and hip circumference, blood pressure (BP), fasting blood glucose (FBG), insulin and lipid profiles were measured and B-ultrasound examination was performed in all subjects.
RESULTS: NAFLD patients showed risk factors for metabolic syndrome: elevated BMI, waist-to-hip ratio, BP, FBG, homeostasis model assessment-estimated insulin resistance, total triglyceride, total cholesterol and low-density lipoprotein-cholesterol, while decreased high-density lipoprotein-cholesterol level compared with the control group. The GG genotype distributions of rs11235972 in the NAFLD group differed significantly from that in the control group. We found that waist circumference between CC (58.76 ± 6.45 cm) and CT+TT (57.00 ± 5.59 cm), and hip circumference between CC (71.28 ± 7.84 cm) and CT+TT genotypes (69.06 ± 7.75 cm) were significantly different with and without rs1800849 variation (P < 0.05).
CONCLUSION: A higher prevalence of rs11235972 GG genotype was observed in the NAFLD group compared with the control group. No differences were observed for the other SNPs. However, there was a significant difference in body height in addition to waist and hip circumference between the CC (mutant type group) and CT+TT group with and without rs1800849 variation.
Core tip: There are few population-based prevalence studies of pediatric nonalcoholic fatty liver disease (NAFLD). Uncoupling protein 3 (UCP3) is considered to be associated with obesity, given the role for UCP3 in the regulation of energy and lipid metabolism. This is the first study to report that there significant difference of body height, waist and hip circumference between CC (mutant type group) and CT+TT group with and without rs1800849 variation were found. This study confirmed the hypothesis that polymorphisms of the UCP3 are associated with the occurrence of NAFLD. These variations could be useful for the diagnosis and/or prognosis of NAFLD.