
POLYMORPHISMS OF HPC2/ELAC2 AND SRD5A2
(5α-Reductase Type II) GENES IN PROSTATE CANCER İzmirli M1,*, Arikan B2, Bayazit Y3, Alptekin D4 *Corresponding Author: Muzeyyen İzmirli, Department of Medical Biology, Faculty of Medicine, Bezmialem
Vakif University, 34093, Istanbul, Turkey; Tel.: +90-212-523-37-19, Fax: +90-212-523-23-26;
E-mail: muzeyyenizmirli@gmail.com. page: 31
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INTRODUCTION
Prostate cancer results from alteration of the balance
between cell proliferation and cell death in the
prostate gland. This cancer accounts for 32% of total
cancers in men [1]. Prostate cancer is caused by hormonal,
dietary, environmental and genetic factors. The
genes HPC2/ ELAC2, SRD5A2 (5α-reductase type II),
HPC1 (hereditary prostate cancer 1), AR (androgen receptor),
PSA (prostate specific antigen) are among the
genes responsible for it [1].
The HPC2/ELAC2 gene belongs to a family of prostate
cancer susceptibility genes which encode an evolutionarily
conserved metal-dependent hydrolase [1] that is
3’ processing endoribonuclease and to interact a component
of the mitotic apparatus is a γ tubulin. Thus, it is suggested
that the ELAC2 gene is associated with cell cycle
control [2,3]. The HPC1/ELAC2 protein contains 826
amino acids. Its gene is located on chromosome 17p11.2
and contains 24 exons. The are includes two recurrent
missense mutations (Ser217Leu and Ala541Thr) [4].
Steroid 5α-reductase type II irreversibly converts
testosterone to dihydrotestosterone in prostatic cells
[5,6]. Steroid 5α-reductase type II consists of 254
amino acids [7]. Its gene SRD5A2 contains five exons
[8] and 56.4 kb and is located on chromosome 2p22-
23. The single nucleotide polymorphisms in this gene
that have been studied in relation to prostate cancer are
Ala49Thr and Val89Leu [9]. We have investigated the relationship between Ser217Leu and Ala541Thr polymorphisms
in the HPC2/ELAC2 gene and Ala49Thr
and Val89Leu polymorphisms in the SRD5A2 gene in
Turkish men with prostate cancer.
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