Association of Gallstone and Polymorphisms of ABCB11 Gene among the Adult Patients in Iran: A Case Control Study

Abstract

Background: Gallstone disease (GSD) is a prevalent gastrointestinal condition influenced by genetic, environmental, and dietary factors. The ATP-binding cassette subfamily B member 11 (ABCB11) gene, encoding the bile salt export pump (BSEP), plays a critical role in bile acid transport. Polymorphisms in ABCB11 have been implicated in gallstone pathogenesis, yet evidence from Middle Eastern populations, particularly Iran, remains limited. Our study seeks to address these knowledge gaps by evaluating the association between rs2287622 and hepatic function markers in a distinct population. Materials and Methods: This investigation, conducted in a medical facility with matched participants, involved 100 individuals diagnosed with GSD and 100 comparable healthy volunteers matched by age and gender. We used a targeted PCR method (ARMS-PCR) for variant detection. Laboratory tests evaluated blood fats and hepatic indicators. We applied logistic regression modeling to explore the connection between rs2287622 and GSD, controlling for influencing variables. Results: The mean age of cases was significantly higher than controls (56.74 ± 16.25 vs. 43.07 ± 14.68 years, P<0.001). Cases exhibited elevated serum levels of SGOT (P=0.021), SGPT (P=0.016), ALP (P=0.001), and direct bilirubin (P<0.001). No significant differences were observed in allele frequencies (P=0.78) or genotype distributions (P=0.24) of ABCB11 polymorphisms between groups. TT was the most prevalent genotype, with no significant associations found between genotype and clinical parameters or GSD risk. Conclusion: This study found no significant association between ABCB11 polymorphisms and GSD among Iranian adults. Future research with larger samples and functional analyses is recommended to clarify the genetic determinants of GSD in this population.