【摘要】 目的:探讨核受体(NRs)基因在汉族人群中家族遗传性胆囊胆固醇结石(HCGD)患者肝组织中表达的变化。方法:收集9例HCGD患者(HCGD组)、9例散发性胆固醇结石患者(SCGD,SCGD组)和7例无胆石病肝血管瘤患者(对照组)血液与手术肝组织标本。用酶法检测血清脂代谢相关指标,用qRT-PCR测定肝组织肝NRs:肝X受体(LXRα)、法尼醇X受体(FXR)、甾醇调节元件结合蛋白2(SREBP2)、雌激素受体α/β(ERα/β)、G蛋白偶联受体30(GPR30)、过氧化物酶体增殖物激活受体γ(PPARγ)mRNA的表达。结果:HCGD组血清总胆汁酸(TBA)含量较对照组与SCGD组明显降低(均P<0.05),其余脂代谢相关指标各组间均无统计学差异(均P>0.05)。与对照组比较,HCGD组ERα/β、SREBP2、PPARγ的mRNA表达量明显升高,SCGD组FXRmRNA明显升高(均P<0.05);LXRα和GPR30mRNA在各组间均无统计学差异(均P>0.05)。HCGD组中ERα、ERβmRNA表达与患者血清TBA水平呈负相关(r=-1.000,P=0.000;r=-0.989,P=0.011)。结论:ERα/β、SREBP2、PPARγ基因在HCGD患者肝组织中表达上调,其高表达可能参与了HCGD的发生发展。更多还原

【Abstract】 Objective: To investigate the changes in gene expressions of nuclear receptors(NRs) in hepatic tissue of patients with hereditary cholesterol gallstone(HCGD) of Chinese Han nationality.Methods: The blood samples and surgical specimens of hepatic tissue from 9 patients with HCGD(HCGD group), 9 patients with sporadic cholesterol gallstone(SCGD, SCGD group), and 7 hepatic hemangioma patients without gallstone(control group) were collected. The serum levels of lipid metabolism related indicators were determined by enzymatic assay, and mRNA expressions of NRs in liver tissues, which included liver X receptor(LXRα), farnesoid X receptor(FXR), sterol regulatory element binding protein 2(SREBP2), estrogen receptors α and β(ERα/β), G protein-coupled receptor 30(GPR30), peroxisome proliferator activated receptor γ(PPARγ), were examined by qRT-PCR.Results: The serum level of total bile acid(TBA) in HCGD group was significantly reduced compared with control group and SCGD group(both P<0.05), while no significant differences were noted in other lipid metabolism related indicators among the three groups(all P>0.05). Compared with control group, the mRNA expression levels of ERα/β, SREBP2, and PPARγ in HCGD group were significantly increased in HCGD group, and the FXR mRNA expression level was significantly increased in SCGD group(all P<0.05); the mRNA expression levels of LXRα and GPR30 showed no significant differences among the three groups(both P>0.05). in HCGD group, the mRNA expressions of ERα and ERβ were negatively correlated with the serum TBA level(r=–1.000, P=0.000; r=–0.989, P=0.011). Conclusion: The genes expressions of ERα/β, SREBP2 and PPARγ are up-regulated in the liver tissue of HCGD patients, which may play important roles in the pathogenesis of HCGD.更多还原