Yan-Ping Xu, Jun-Fen Fu, Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou 310003, Zhejiang Province, China.
World J Gastroenterol. 2013 Sep 21;19(35):5897-903. doi: 10.3748/wjg.v19.i35.5897.
To confirm the hypothesis that polymorphisms of the uncoupling protein 3 (UCP3) gene are associated with the occurrence of nonalcoholic fatty liver disease (NAFLD).
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.
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).
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.
验证解偶联蛋白 3(UCP3)基因多态性与非酒精性脂肪性肝病(NAFLD)发生相关的假说。
本研究纳入了 250 名 NAFLD 患者(男 147 例,女 103 例)和 200 名健康对照者(对照组,男 109 例,女 91 例),年龄为 6-16 岁。采用 MassArray 技术对 UCP3 基因的 4 个非同义单核苷酸多态性(SNP)rs1726745、rs3781907、rs11235972 和 rs1800849 进行基因分型。所有受试者均测量体重指数(BMI)、腰围和臀围、血压(BP)、空腹血糖(FBG)、胰岛素和血脂谱,并进行 B 超检查。
与对照组相比,NAFLD 患者具有代谢综合征的危险因素:BMI、腰臀比、BP、FBG、稳态模型评估-胰岛素抵抗、总三酰甘油、总胆固醇和低密度脂蛋白胆固醇升高,而高密度脂蛋白胆固醇水平降低。rs11235972 在 NAFLD 组的 GG 基因型分布与对照组有显著差异。我们发现,CC(58.76±6.45cm)和 CT+TT(57.00±5.59cm)组的腰围,以及 CC(71.28±7.84cm)和 CT+TT 基因型(69.06±7.75cm)的臀围之间存在显著差异(P<0.05)。
与对照组相比,NAFLD 组 rs11235972 的 GG 基因型频率更高。其他 SNP 则无差异。然而,除了腰围和臀围外,CC(突变型组)和 CT+TT 组的身高也存在显著差异,与 rs1800849 变异有关。