Association of APOE-C1 gene cluster polymorphisms with gallstone disease

Abstract Background Genetic polymorphisms in apolipoprotein genes may be associated with alteration in lipid profile and susceptibility to gallstone disease. Aim To find out the association of APOE Hha I and APOC1 Hpa I polymorphisms with gallstone disease. Subjects Hha I polymorphism of APOE and Hpa I polymorphism of APOC1 were analysed in DNA samples of 214 gallstone patients and 322 age- and sex-matched healthy controls. Methods For genotyping DNA samples of all study subjects were amplified using polymerase chain reaction, followed by restriction digestion. All statistical analyses were done using SPSS v11.5 and ARLEQUIN v2.0 softwares. Result APOC1 Hpa I polymorphism was found to be significantly associated with gallstone disease. Frequency of H2H2 was significantly higher ( P  = 0.017) in patients than in controls and it was imposing very high risk (OR 9.416, 95% CI 1.125–78.786) for gallstone disease. When data were stratified in male and female, H2H2 was associated ( P  = 0.011) with disease in females only. Analysis at allele level revealed no association. APOE Hha I polymorphism and APOE-C1 haplotypes showed no association with gallstone disease. Conclusion APOC1 Hpa I polymorphism is associated with gallstone disease and shows gender-specific differences. APOE Hha I polymorphism may not be associated with gallstone disease.