[Polymorphism at the LDL receptor gene locus in patients with cholesterol gallstone disease]

To investigate the association between the dinucleotide repeat polymorphism at the 3' end of the LDL receptor gene and cholesterol gallstone disease.

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.

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).

The present study suggests that the LDL receptor gene polymorphism may be associated with cholesterol gallstone disease.