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

## TL;DR

This study investigated the link between ABCB11 gene polymorphisms and gallstone disease in Iranian adults but found no significant association.

## Contribution

The study provides new insights into the genetic factors of gallstone disease in the Iranian population.

## Key findings

- No significant differences in ABCB11 allele frequencies or genotype distributions were found between gallstone patients and controls.
- TT was the most common genotype, with no significant associations to gallstone risk or clinical parameters.
- Patients with gallstone disease had higher levels of SGOT, SGPT, ALP, and direct bilirubin compared to controls.

## 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, P0.001). Cases exhibited elevated serum
levels of SGOT (P=0.021), SGPT (P=0.016), ALP (P=0.001), and direct
bilirubin (P0.001). 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.