Open AccessProfile of common prostate cancer risk variants in an unscreened Romanian population
Author(s) -
Iordache Paul D.,
Mates Dana,
Gunnarsson Bjarni,
Eggertsson Hannes P.,
Sulem Patrick,
Guðmundsson Júlíus,
Benónísdóttir Stefania,
Csiki Irma Eva,
Rascu Stefan,
Radavoi Daniel,
Ursu Radu,
Staicu Catalin,
Calota Violeta,
Voinoiu Angelica,
Jinga Mariana,
Rosoga Gabriel,
Danau Razvan,
Sima Sorin Cristian,
Badescu Daniel,
Suciu Nicoleta,
Radoi Viorica,
Manolescu Andrei,
Rafnar Thorunn,
Halldórsson Bjarni V.,
Jinga Viorel,
Stefánsson Kári
Publication year - 2018
Publication title -
journal of cellular and molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.44
H-Index - 130
eISSN - 1582-4934
pISSN - 1582-1838
DOI - 10.1111/jcmm.13433
Subject(s) - genome wide association study , single nucleotide polymorphism , population , snp , biology , genetic association , genetics , prostate cancer , oncology , genotype , cancer , medicine , gene , environmental health
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 SNP s 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.