Background and Aims: Studies demonstrated that gene mutations are closely related to the occurrence of gallstones. This study was conducted to investigate the relationship between the single nucleotide polymorphisms (SNPs) of the BChE gene and the risk of gallstone disease in Han population from Guizhou province through a case-control study, so as to provide basis for studying its regulatory mechanism in gallstone formation. 
Methods: A total of 171 patients with gallstone disease and 125 health control subjects of Han nationality in Guizhou province were enrolled. The genomic DNA was extracted from whole blood samples of gallstone disease group and healthy control group. Using the risk-related SNP ABCG8 rs11887534 (D19H) as a positive control, the obesity-related genes BChE rs1126680 and rs1803274 in gallstone disease group and healthy control group were genotyped by TaqMan SNP assay. In homozygous and heterozygous models, the risk-related to SNPs was analyzed by Pearson χ2 test or Fisher’s exact test. The odds ratios were determined by Logistic regression analysis and the relationship between SNPs and gallstone susceptibility was analyzed.  
Results: The allele frequency distribution was in accordance with the Hardy- Weinberg equilibrium (χ2=0.641, P>0.05), so the selected sample had a population representativeness. The concentrations of high-density lipoprotein cholesterol and low-density lipoprotein cholesterol were significantly higher in the whole blood sample from patients with gallstones than those from healthy subjects (both P<0.05).  The genotyping results of TaqMan SNP assay showed that 3 tag SNPs were successfully genotyped, and the success rate of genotyping for each tag SNP was greater than or equal to 99.3%. The CG genotype of the positive control ABCG8 rs11887534 was a SNP mutation site related to the risk of gallstones (P=0.006), the CT genotype of the obesity-related gene BChE rs1803274 was significantly associated with gallstone disease (P=1.312×10–15), but the obesity-related gene BChE rs1126680 was an irrelevant mutation site to gallstone disease (P=0.616). There was a relatively strong correlation between the CT genotype of BChE rs1803274 and gallstone risk females (95% CI=0.237–0.772, P=0.009).
Conclusion: In Han population of Guizhou province, the SNPsof the BChE gene is closely related to the risk of gallstones. The risk of gallstones is increased in individual, especially in women with BChE variant rs1803274.