Objective: To investigate the association between the dinucleotide repeat polymorphism at the 3' end of the LDL receptor gene and cholesterol gallstone disease.
Methods: Polymorphism of the (dTA)n was amplified by using polymerase chain reaction, and the alleles identification was performed with denaturing polyacrylamide gel electrophoresis and silver stain technique.
Results: Analysis of allele frequencies in 131 unrelated Chinese gallstone patients and 79 controls indicated that the C allele was more frequent in the patients with cholesterol gallstones than that in the controls (0.40 vs 0.27, P < 0.01), and the frequency of the BB genotype of the LDL receptor gene was markedly lower (P < 0.005), while the CC and BC genotypes were significantly higher in the patients with cholesterol gallstones than in the controls respectively (P < 0.05, P < 0.05).
Conclusion: The present study suggests that the LDL receptor gene polymorphism may be associated with cholesterol gallstone disease.