Canadian Journal of Gastroenterology and Hepatology

Canadian Journal of Gastroenterology and Hepatology / 2007 / Article

Original Article | Open Access

Volume 21 |Article ID 329342 |

Manjusha Dixit, Gourdas Choudhuri, Rajan Saxena, Balraj Mittal, "Association of Apolipoprotein A1-C3 Gene Cluster Polymorphisms with Gallstone Disease", Canadian Journal of Gastroenterology and Hepatology, vol. 21, Article ID 329342, 8 pages, 2007.

Association of Apolipoprotein A1-C3 Gene Cluster Polymorphisms with Gallstone Disease

Received05 Apr 2006
Accepted22 Oct 2006


INTRODUCTION: Genetic polymorphisms in apolipoprotein genes may be associated with alteration in lipid profile and susceptibility to gallstone disease.AIM: To determine the association between apolipoprotein A1 (APOA1) (−75 guanine [G] to adenine [A] and +83/84 M2+/−, MspI) and apolipoprotein C3 (APOC3) (SstI) polymorphisms with gallstone disease.METHODS: MspI polymorphisms of the APOA1 gene and SstI polymorphisms of APOC3 were analyzed in DNA samples of 214 gallstone patients and 322 age- and sex-matched healthy controls. All statistical analyses were performed using SPSS version 11.5 (SPSS, USA) and Arlequin version 2.0 (Arlequin, Switzerland).RESULTS: The APOA1 −75 G/A polymorphism was significantly associated with gallstone disease. Patients with the GG genotype (P=0.015) and G allele carriers (P=0.004) had a significantly higher risk of gallstone disease (1.087-fold and 1.561-fold, respectively), whereas patients with AA genotypes (P=0.011) and A allele carriers (P=0.004) were protected (OR 0.230 and 0.641, respectively) against gallstone disease. APOA1 +83 M2+/− and APOC3 SstI polymorphisms were not associated with gallstone disease. Case-control analysis of haplotypes showed a significant association in males only. G-M2+-S1 conferred risk for gallstone disease (P=0.036; OR 1.593, 95% CI 1.029 to 2.464), while A-M2+-S1 was protective (P=0.002; OR 0.370, 95% CI 0.197 to 0.695) against gallstone disease. In APOA1−75-APOA1+83 bilocus haplotypes, G-M2+ was associated (P=0.0001) with very high risk (OR 3.173, 95% CI 1.774 to 5.674) for gallstone disease in males only. APOA1−75-APOC3SstI haplotypes also showed significant association while APOA1+83-APOC3SstI haplotypes showed no association with gallstone disease.CONCLUSIONS: The APOA1 −75 G/A polymorphism is associated with gallstone disease and shows sex-specific differences. On the other hand, APOA1 M2+/− and APOC3 SstI polymorphisms may not be associated with gallstone disease. Haplotype analysis is a better predictor of risk for gallstone disease.

Copyright © 2007 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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