Steroid hormones polymorphisms and cholelithiasis in Greek population

    loading  Checking for direct PDF access through Ovid



Genetic variation in genes involved in steroid biosynthesis, metabolism and signal transduction have been suggested to play a role in gallstone disease.


To elucidate the possible role of genetic variation in the estrogen receptors α and β (ER-α, ER-β) and androgen receptor (AR) genes in breast cancer risk, the −1174(TA)n, c.1092+3607(CA)n and c.172(CAG)n repeat polymorphisms of the three genes were studied. A case–control cohort of 99 patients with cholelithiasis and 179 controls were used.


No significant difference was observed in the frequency distribution of −1174(TA)0–26 in the ER-α gene between patients and controls, while a significant difference was observed in the frequency distribution of repeat polymorphism c.1092+3607(CA)5–27 and c.172(CAG)5–32 in the ER-β gene and AR gene, respectively (P≤0.0001 and P=0.05, respectively). A significant difference was observed in the repeat genotype distribution (SS, SL, LL) in the (CA)n of the ER-β gene (P<0.0001) and in the (CAG)n of the AR gene (P≤0.0001). A significantly decreased odds ratio for cholelithiasis risk was observed in individuals having the SL and LL genotype for ER-β gene compared with SS genotype (OR=0.212; 95% CI 0.105–0.426; P<0.0001 and OR=0.042; 95% CI 0.018–0.097, respectively) and LL genotype for AR gene (OR=0.622; 95% CI 0.345–1.121; P=0.114 and OR=0.287; 95% CI 0.151–0.543, P<0.0001, respectively). This protective effect of SL and LL genotypes for ER-β and LL for AR gene remained evident (P<0.0001 for all of them) even after adjustment for various risk factors.


In conclusion an association for cholelithiasis risk between short alleles for both c.1092+3607(CA)5–27 and c.172(CAG)5–32 repeat polymorphisms of the ER-β and AR was found in individuals of Greek descent.

Related Topics

    loading  Loading Related Articles