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.