Steroid hormones polymorphisms and cholelithiasis in Greek population.
BACKGROUND
Genetic variation in genes involved in steroid biosynthesis, metabolism and signal transduction have been suggested to play a role in gallstone disease.


METHODS
To elucidate the possible role of genetic variation in the estrogen receptors alpha and beta (ER-alpha, ER-beta) 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.


RESULTS
No significant difference was observed in the frequency distribution of -1174(TA)(0-26) in the ER-alpha 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-beta gene and AR gene, respectively (P< or =0.001 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-beta gene (P<0.0001) and in the (CAG)n of the AR gene (P< or =0.0001). A significantly decreased odds ratio for cholelithiasis risk was observed in individuals having the SL and LL genotype for ER-beta 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-beta and LL for AR gene remained evident (P<0.0001 for all of them) even after adjustment for various risk factors.


CONCLUSIONS
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-beta and AR was found in individuals of Greek descent.
Kitsiou-Tzeli
S
S
Medical School, Department of Medical Genetics, Athens, University of Athens, Greece. skitsiou@med.uoa.gr
Giannatou
E
E
Spanos
I
I
Nicolaidou
P
P
Fretzayas
A
A
Tzetis
M
M
Lazaris
D
D
Kanavakis
E
E
Tsezou
A
A
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002769:Cholelithiasis / Q000235:genetics* / Q000378:metabolism*; D047628:Estrogen Receptor alpha / Q000235:genetics*; D047629:Estrogen Receptor beta / Q000235:genetics*; D005260:Female; D005838:Genotype; D006115:Greece; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D011944:Receptors, Androgen / Q000235:genetics*
D047628:Estrogen Receptor alpha; D047629:Estrogen Receptor beta; D011944:Receptors, Androgen