Genetic polymorphisms of estrogen receptor alpha and catechol-O-methyltransferase genes in Turkish patients with familial prostate carcinoma.
OBJECTIVE
Estrogen is one of the most crucial hormones participating in the proliferation and carcinogenesis of the prostate glands. Genetic polymorphisms in the estrogen metabolism pathway might be involved in the risk of prostate carcinoma development. We evaluated the association between genetic polymorphisms in estrogen receptor alpha (ESR1) and catechol-O-methyltransferase (COMT) genes and the risk of developing familial prostate carcinoma.


METHODS
In this study, 34 cases with prostate carcinoma whose first-degree relatives had prostate carcinoma and 30 healthy age-matched male controls were enrolled. The genotypes of ESR1 and COMT genes were analyzed employing polymerase chain reaction-restriction fragment length polymorphism method. 34 cases with prostate carcinoma, whose first degree relatives had prostate carcinoma and 14 age-matched male controls were enrolled to analyze the genotype of these two genes.


RESULTS
Among control patients, the ESR1 PvuII genotypes of C/C, C/T and T/T were observed in 37%, 26% and 37%, respectively, whereas the C/C, C/T and T/T genotypes were observed in 18%, 41% and 41% of case patients, respectively. Among controls, the ESR1 PvuII allele frequencies of C and T were equally observed, whereas the C and T allele frequencies were observed in 38% and 62% of patients, respectively. Among ESR1 PvuII genotypes there were not any significant difference in terms of genotype (P = 0.199) and allele (P = 0.181) frequencies. Among controls, the ESR1 XbaI genotypes of G/G, G/A and A/A were observed in 33%, 37% and 33%, respectively, whereas the G/G, G/A and A/A genotypes were observed in 12%, 47% and 41% of patients, respectively. Among controls, the ESR1 XbaI allele frequencies of A and G were observed equally, respectively, whereas the A and G frequencies were observed in 65% and 35% of patients, respectively. Among ESR1 Χ baI, there was not any significant difference in terms of genotype (P = 0.111) and allele (P = 0.093) frequencies. But the C/C genotype of the PvuII site and G/G genotype of the XbaI site in the ESR1 gene were associated significantly with the risk of developing prostate carcinoma. The G/G, G/A and A/A genotypes of the COMT gene were observed in 50%, 29% and 21% of control patients and in 53%, 21% and 26% of case patients, respectively. The A and G allele frequencies of the COMT gene were observed in 36.7%, 63.3% of control patients and in 36.8%, 63.2% of case patients, respectively. In COMT gene, there was not any significant difference in terms of genotype (P = 0.843) and allele (P = 0.991) frequencies. But the G/A genotype of the COMT gene had a weak tendency toward increased risk.


CONCLUSIONS
Polymorphisms of ESR1 gene in the estrogen metabolism pathway were associated significantly with familial prostate carcinoma risk. Single nucleotide polymorphisms of low-penetrance genes are targets for understanding the genetic susceptibility of familial prostate carcinoma.
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.
Ayfer
A
Pazarbasi
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.
M Bertan
MB
Yilmaz
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.
Davut
D
Alptekin
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.
Umit
U
Luleyap
Department of Urology, Faculty of Medicine, Cukurova University, Adana, Turkey.
Zuhtu
Z
Tansug
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.
Lutfiye
L
Ozpak
Department of Medical Biology, Faculty of Medicine, Bezmi Alem University, Istanbul, Turkey.
Muzeyyen
M
Izmirli
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.
Dilge
D
Onatoglu-Arikan
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.
Sabriye
S
Kocaturk-Sel
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.
Mehmet Ali
MA
Erkoc
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.
Ozgur
O
Turgut
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.
Ceyhun
C
Bereketoglu
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.
Erdal
E
Tunc
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.
Eylul
E
Akbal
Catechol-O-methyltransferase; estrogen receptor alpha; familial prostate carcinoma; genetic polymorphism