Imbalance in cholesterol homeostasis may lead to gallstone disease. Apolipoprotein B is sole component of low-density lipoprotein and plays an important role in cholesterol metabolism. The present study was carried out to explore the association of APOB 3' VNTR, exon 26 XbaI and signal peptide insertion/ deletion polymorphisms with gallstone disease. 214 ultrasonographically proven gallstone patients and 322 healthy, age and sex matched controls were taken for the study. Genotyping was done using PCR followed by polyacrylamide gel electrophoresis for VNTR and insertion/ deletion analysis. For APOB XbaI polymorphism PCR product was digested with XbaI restriction enzyme, followed by agarose gel electrophoresis. All statistical analyses were done using SPSS v11.5. Higher repeat alleles of APOB 3' VNTR polymorphism were more frequent in gallstone patients than in controls. Alleles with more than 57 repeats were present only in patient group. Long (L) alleles with repeat higher than 49, were significantly higher (P=0.000; OR=3.705, 95% CI 2.577-5.326) and medium (M) alleles were lower (P=0.000; OR=0.406, 95% CI 0.304-0.542) in patients than in controls. To nullify the effect of gender, data was further stratified into male and female population. APOB 3' VNTR, L alleles were imposing risk and M alleles were protective in both male and female population. APOBXbaI and insertion/deletion polymorphisms were not found to be associated with the gallstone disease. Longer alleles of APOB 3' VNTR occur more frequently in gallstone patients, and may be an important risk factor for the development of gallstone disease. APOB XbaI and signal peptide insertion/deletion polymorphisms may not be contributing to the risk for gallstone disease.
