Profile of common prostate cancer risk variants in an unscreened Romanian population

J Cell Mol Med. 2018 Mar;22(3):1574-1582. doi: 10.1111/jcmm.13433. Epub 2017 Dec 20.


To find sequence variants affecting prostate cancer (PCA) susceptibility in an unscreened Romanian population we use a genome-wide association study (GWAS). The study population included 990 unrelated pathologically confirmed PCA cases and 1034 male controls. DNA was genotyped using Illumina SNP arrays, and 24.295.558 variants were imputed using the 1000 Genomes data set. An association test was performed between the imputed markers and PCA. A systematic literature review for variants associated with PCA risk identified 115 unique variants that were tested in the Romanian sample set. Thirty of the previously reported SNPs replicated (P-value < 0.05), with the strongest associations observed at: 8q24.21, 11q13.3, 6q25.3, 5p15.33, 22q13.2, 17q12 and 3q13.2. The replicated variants showing the most significant association in Romania are rs1016343 at 8q24.21 (P = 2.2 × 10-4 ), rs7929962 at 11q13.3 (P = 2.7 × 10-4 ) and rs9364554 at 6q25.2 (P = 4.7 × 10-4 ). None of the variants tested in the Romanian GWAS reached genome-wide significance (P-value <5 × 10-8 ) but 807 markers had P-values <1 × 10-4 . Here, we report the results of the first GWAS of PCA performed in a Romanian population. Our study provides evidence that a substantial fraction of previously validated PCA variants associate with risk in this unscreened Romanian population.

Keywords: GWAS; Romania; genome-wide association study; prostate cancer; unscreened population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alleles
  • Biomarkers, Tumor / blood
  • Biomarkers, Tumor / genetics*
  • Case-Control Studies
  • Gene Expression Profiling
  • Gene Frequency
  • Genetic Loci*
  • Genetic Predisposition to Disease*
  • Genome, Human
  • Genome-Wide Association Study
  • Humans
  • Male
  • Middle Aged
  • Neoplasm Staging
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide*
  • Prostate-Specific Antigen / blood
  • Prostate-Specific Antigen / genetics*
  • Prostatic Neoplasms / blood
  • Prostatic Neoplasms / diagnosis*
  • Prostatic Neoplasms / genetics
  • Prostatic Neoplasms / pathology
  • Risk
  • Romania


  • Biomarkers, Tumor
  • Prostate-Specific Antigen