Genetic variants in RNA-induced silencing complex genes and prostate cancer

World J Urol. 2017 Apr;35(4):613-624. doi: 10.1007/s00345-016-1917-0. Epub 2016 Aug 6.


Purpose: The purpose of this study is to evaluate the potential association between genetic variants in genes encoding the components of RNA-induced silencing complex and prostate cancer (PCa) risk. Genetic variants chosen for this study are rs3742330 in DICER1, rs4961280 in AGO2, rs784567 in TARBP2, rs7813 in GEMIN4 and rs197414 in GEMIN3.

Methods: The study involved 355 PCa patients, 360 patients with benign prostatic hyperplasia and 318 healthy controls. For individuals diagnosed with PCa, clinicopathological characteristics including serum prostate-specific antigen level at diagnosis, Gleason score (GS) and clinical stage were determined. Genotyping was performed using high-resolution melting analysis, PCR-RFLP, TaqMan SNP Genotyping Assay and real-time PCR-based genotyping assay using specific probes. Allelic and genotypic associations were evaluated by unconditional linear and logistic regression methods.

Results: The study provided no evidence of association between the analyzed genetic variants and PCa risk. Nevertheless, allele A of rs784567 was found to confer the reduced risk of higher serum PSA level at diagnosis (P = 0.046; Difference = -66.64, 95 % CI -131.93 to 1.35, for log-additive model). Furthermore, rs4961280, as well as rs3742330, were shown to be associated with GS. These variants, together with rs7813, were found to be associated with the lower clinical stage of PCa. Also, rs3742330 minor allele G was found to be associated with lower PCa aggressiveness (P = 0.036; OR 0.14, 95 % CI 0.023-1.22, for recessive model).

Conclusions: According to our data, rs3742330, rs4961280 and rs7813 qualify for potentially protective genetic variants against PCa progression. These variants were not shown to be associated with PCa risk.

Keywords: Prostate cancer; rs197414; rs3742330; rs4961280; rs7813; rs784567.

MeSH terms

  • Alleles
  • Argonaute Proteins / genetics
  • Case-Control Studies
  • DEAD Box Protein 20 / genetics
  • DEAD-box RNA Helicases / genetics
  • Genetic Variation
  • Humans
  • Kallikreins / blood
  • Linear Models
  • Logistic Models
  • Male
  • Minor Histocompatibility Antigens / genetics
  • Neoplasm Grading
  • Neoplasm Staging
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide
  • Prostate-Specific Antigen / blood
  • Prostatic Hyperplasia / genetics
  • Prostatic Neoplasms / blood
  • Prostatic Neoplasms / genetics*
  • Prostatic Neoplasms / pathology
  • RNA-Binding Proteins / genetics
  • RNA-Induced Silencing Complex / genetics*
  • Real-Time Polymerase Chain Reaction
  • Ribonuclease III / genetics
  • Ribonucleoproteins, Small Nuclear / genetics


  • AGO2 protein, human
  • Argonaute Proteins
  • GEMIN4 protein, human
  • Minor Histocompatibility Antigens
  • RNA-Binding Proteins
  • RNA-Induced Silencing Complex
  • Ribonucleoproteins, Small Nuclear
  • trans-activation responsive RNA-binding protein
  • DICER1 protein, human
  • Ribonuclease III
  • KLK3 protein, human
  • Kallikreins
  • Prostate-Specific Antigen
  • DEAD Box Protein 20
  • DEAD-box RNA Helicases