Objectives: To explore the relationship between the XbaI and EcoRI locus polymorphisms of apolipoprotein B gene and gallstone disease.
Methods: Restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) technique was used to analyze the genotype of the ApoB gene in 106 patients and 105 controls, according to the design of case control study.
Results: The frequencies of X+X- and X-X- of XbaI locus polymorphism were significantly different between the patients and controls and the frequency of X+ allele in the patients was significantly higher than that in the controls (0.104 vs 0.052). Meanwhile, the levels of LDLc and ApoB in the patients were significantly higher than those in the controls among the group of X+X- genotype. The frequencies of E+E- and E+E+ of EcoRI locus polymorphism were significantly different between the patients and controls and the frequency of E-allele in the patients was significantly higher than that the in controls, and the level of LDLc with E+E- genotype was higher than that with E+E+ genotype among the patients.
Conclusion: ApoB gene X+ allele of XbaI locus and E-allele of EcoRI locus may be the susceptible genes for gallstone disease, and variation of X+ and E-alleles may affect serum lipid metabolism and formation of gallstone.