ABSTRACT
Increased level of cholesterol may be saturated in the gall bladder resulting in gall stone. Product of ABCG8 gene is responsible for evacuation of cholesterol from cells and made dissolved cholesterol in bile. It appears that genetic changes of this gene can alter its function and make gall stone. This study was designed to evaluate association of D19H polymorphism of ABCG8 gene with gallstone susceptibility. This was a case-control research that was conducted on 100 gallstone patients and 106 healthy controls without any family history of gallstone. For DNA extraction, salting out method has been used and for detection of alleles in polymorphic region, PCR-RFLP has been used. Heterozygote genotype in this polymorphic region [G/C] had association with gallstone formation [OR=7.14; 95%CI=3.47-14.66; P<0.001]. We found that people with heterozygote genotype had more than 7 times susceptibility to gall stone compared to healthy controls. This study confirms previous studies about D19H polymorphism on ABCG8 gene and shows importance of this SNP in different populations. For this reason, we can use analysis of this region to predict susceptibility to gall stone formation