Résumé
Cholesterol gallstone disease is prevalent and its incidence is increasing in China. Supersaturation of biliary cholesterol is a prerequisite for gallstone formation.Recent studies show that disorders of hepatic-enteric metabolism of lipids play important roles in the pathogenesis of gallstone disease and these include： increased biliary cholesterol which originates from an increased uptake of plasma high density lipoprotein mediated by scavenger receptor B type 1,increased secretion of cholesterol into bile via hepatic canalicular cholesterol transporters, and increased intestinal cholesterol absorption in gallstone patients. These eventually lead to supersaturation of biliary cholesterol. Evidences also suggest that decreasing hepatic cholesterol loading, promoting biliary bile acids and phospholipids secretion, and/or inhibiting intestinal cholesterol absorption can moderate saturation of biliary cholesterol, and prevent gallstone formation.
Résumé
ObjectiveTo investigate the single nucleotide polymorphisms (SNPS) in the coding regions of the human ABCA2 gene and to determine the association of some of these SNPs with gallstone disease in a Chinese population. MethodsThe exons and part of the introns of the ABCA2 gene were sequenced using a fluorescent labeling automatic method in 24 patients with gallstone disease to identify and characterize the SNPs in a Chinese population. For SNPs in the exons, case-control studies were performed on patients and controls. ResultsTwelve SNPs were found within a 16911 bp region of the ABCA2 gene. Among them, two were in the exons, ten in the introns and five were novel SNPs. There was no significant difference in the SNPs genotype between the patients and the controis. ConclusionsThere is an important ethnic difference in the SNPs distribution of the human ABCA2 gene. The distribution of SNPs in the coding regions of the human ABCA2 gene is not significantly different between the patients and the controls.