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Aim: It was aimed to assess the association of four polymorphisms and relative haplotypes in the ATP binding cassettes and cholecystokinin A receptor (rs6720173, rs11887534, rs4148217, rs1800857) with the risk of gallstone. Background: Gallstone is a multifactorial disease. Besides high penetrance genes, low or moderate penetrance polymorphisms may increase susceptibility to gallstone. Methods: 200 gallstone patients and 251 healthy controls were analyzed in a case-control association model. Genotyping was carried out by restriction fragment length polymorphism. Randomly 10% of samples underwent for direct sequencing to confirm results. Results: Heterozygote variant of rs11887534 demonstrated protective effect on the risk of gallstone susceptibility in males (P=0.013; OR=0.125; CI95%=0.048-0.325). In contrast, C/C genotype associated with gallstone susceptibility in females (P=0.004; OR=5.555 CI95%=1.975-10.632). Moreover, rs1800857 showed association only in females (P=0.019; OR=0.283; CI95%=0.099-0.811). Haplotype analysis for rs1800857 showed GC, CC and CA association with gallstone. Conclusion: The most imperative polymorphisms of contributing genes to gallstone were analyzed in this study and rs11887534 and rs1800857 appeared to be associated with gallstone, which is expected to be further veried in a larger cohort in the future.

ATP binding cassette and cholecystokinin A receptor genetic variations in gallstone susceptibility