• Association of Gly84Glu (251G / A) mutation in HOXB13 gene with prostate cancer of Iranian men
  • SeyedAli Abdollahi Oskouei,1 Zahra TahmasebiFard,2,*
    1. Department of Biology, Bonab Branch, Islamic Azad University, Bonab, Iran
    2. Department of Biology, Roudehen Branch, Islamic Azad University, Roudehen, Iran


  • Introduction: HOXB13 is a homeodomain transcription factor that is linked to recurrence following radical prostatectomy. While HOXB13 Regulates Androgen receptors (AR) functions in a context-dependent manner, its critical effectors in prostate cancer (PC) metastasis remain largely unknown. This gene belongs to the homeobox gene family and encodes a transcription factor. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. Men who inherit a rare genetic variant in HOXB13 (G84E or rs138213197) have a 10-20-fold increased risk of prostate cancer. The present study investigates the relationship between Gly84Glu (251G/A) polymorphism and prostate cancer in Iranian women.
  • Methods: This case-control study analyzed blood samples from 100 patients with prostate cancer as well as 100 healthy men. Genomic DNA was extracted using the salting-out method. After design the suitable primers for polymorphism, the samples were amplified for the considered segment, and genotypes of the participants were determined by PCR-RFLP.
  • Results: Both groups were at the age range of 58 to 70; the mean age of participants was 60.54±1.13 years in the cancer group and 58.17±1.13 in the control group. According to the genotype counting, Individuals with prostate cancer had the following genotypes : GG 61% , AA 27%, and AG/GA 12% compared to the control group that had genotypes GG 12%, AA 6%, and AG/GA 6%. There were meaningful differences in the frequencies of homozygotes GG (P=0.001) and AA (P=0.007) between patients and controls. By logistic regression analysis, individuals carrying the AA genotype were a 3.03 times more chance to develop prostate cancer (p=0.004, OR:3.025, CI95%: 1.420-6.446). According to the Hardy–Weinberg equilibrium, the frequency of allele G was 0.67 in the cancer group and 0.85 in the control group. The frequency of allele A was 0.33 in the cancer group and 0.15 in the control group. With logistic regression, the chance of developing prostate cancer in carrying Allele A was increased 2.791 times (p=3.7×10-5, OR:2.791 , CI95%: 1.714-4.544).
  • Conclusion: Polymorphism Gly84Glu (251G/A) in gene HOXB13 is related to the risk of developing prostate cancer and it is likely one of the major factors in its occurrence.
  • Keywords: Gly84Glu mutation, HOXB13, polymorphism, Prostate cancer