BACKGROUND: Genetic factors are one of the significant contributors to prostate
cancer (PCa) development, and hereditary prostate cancer 2 (HPC2) locus gene
ELAC2 is considered a PCa susceptibility region. The HPC2/ELAC2 gene has been
identified by linkage analysis in familial prostate cancer patients in the
United States but has never been studied in Burkina Faso. The objective of the
present study was to analyze the carriage of the C650T (Ser217Leu) and G1621A
(Ala541Thr) mutations of the ELAC2 gene and the risk factors in prostate cancer
patients in Burkina Faso.
METHODS: This case-control study included 76 participants, including 38
histologically confirmed prostate cancer cases and 38 healthy controls without
prostate abnormalities. PCR combined with restriction fragment length
polymorphism (RFLP) was used to characterize the genotypes of the Ser217Leu and
Ala541Thr polymorphisms of the ELAC2 gene. The correlations between the
different genotypes and risk factors for prostate cancer were investigated.
RESULTS: The C650T mutation was present in 44.73% of prostate cancer cases and
47.37% of controls. The G1621A mutation was present in 26.32% of prostate cancer
cases and 15.79% of controls. We did not detect an association between prostate
cancer risk and the Ser217Leu (p=0.972) and Ala541Thr (p=0.267) variants of the
ELAC2 gene. Also, the two ELAC2 SNPs did not correlate with clinical stage,
prostate-specific antigen (PSA) level at diagnosis, or the Gleason score on
biopsies. However, we found that 100% of homozygous carriers of the T650
mutation have an A1621 mutation (p ≤ 0.001).
CONCLUSION: Ser217Leu and Ala541Thr polymorphisms of ELAC2, considered alone or
in combination, are not associated with prostate cancer risk.

Prostate cancer, Ser217Leu and Ala541Thr Variants of ELAC2 Gene