In English | En español
Questions About Cancer? 1-800-4-CANCER

Genetics of Prostate Cancer (PDQ®)

  • Posted: 11/20/2003
  • Updated: 11/10/2014

Table 4. Prostate Cancer Susceptibility Loci Identified Through GWAS in Men of European Ancestry

SNP Chromosomal Locus Nearest Known Gene Within 100 kb Region Study Citations ORa 
rs12185821p21KCNN3 Intronic[186]1.06
rs42457391q32MDM4 Exonic/Coding[186]0.91
rs101874242p11GGCX Intergenic[185]1.06–1.19
rs7210482p15EHBP1 Intronic[189]1.15
rs14656182p21THADA Intronic[190]1.16–1.20
rs119022362p25GRHL1 Intronic[186]1.07
rs126212782q31ITGA6 Intronic[190]1.32–1.47
rs22928842q37MLPH Intronic[191]1.14
rs37715702q37FARP2 Intronic[186]1.12
rs26607533p12VGLL3 Intergenic[192]1.11–1.48
rs76116943q13SIDT1 Intronic[186]0.91
rs109348533q21EEFSEC Intronic[193]1.12
rs67639313q23ZBTB38 Intronic[191]1.04–1.18
rs109366323q26CLDN11 Intergenic[185]1.08–1.28
rs18942924q13AFM Intronic[186]0.91
rs125004264q22PDLIM5 Intronic[190]1.14–1.17
rs76796734q24TET2 Intergenic[190]1.15–1.37
rs21218755p12FGF10 Intronic[185]1.05–1.11
rs22426525p15TERT Intronic[191]1.15–1.39
rs68698415q35BOD1 Intergenic[186]1.07
rs1300676p21CCHCR1 Exonic/Coding[191]1.05–1.20
rs3096702NOTCH4 Intergenic[186]1.07
rs22736696q21ARMC2 Intronic[186]1.07
rs19334886q25RSG17 Intronic[186]0.89
rs9364554SLC22A3 Intronic[192]1.17–1.26
rs104865677p15JAZF1 Intronic[194,195]1.12–1.35
rs64656577q21LMTK2 Intronic[192]1.03–1.19
rs29286798p21SLC25A37 Intergenic[190]1.16–1.26
rs1512268NKX3-1 Intergenic[190]1.13–1.28
rs11135910EBF2 Intronic[186]1.11
rs1099399410q11MSMB Intergenic[192,195]1.15–1.42
rs385069910q24TRIM8 Intronic[186]0.91
rs496241610q26CTBP2 Intronic[194]1.17–1.20
rs712790011p15TH Intergenic[190]1.29–1.40
rs1122856511q13MYEOV Intergenic[193]1.23
rs1156881811q22MMP7 Intergenic[186]0.91
rs90277412q13KRT8 Intergenic[191]1.17
rs10875943TUBA1C Intergenic[185]1.02–1.18
rs800827014q22FERMT2 Intronic[186]0.89
rs714152914q24RAD51B Intergenic[186]1.09
rs68423217p13VPS53 Intergenic[186]1.10
rs1164974317q12HNF1B Intronic[195,197,198]0.86–1.28
rs1165049417q21ZNF652 Intergenic[186]1.15
rs724199318q23SALL3 Intergenic[186]0.92
rs810247619q13PPP1R14A Intergenic[193]1.12
rs2735839KLK3 Intergenic[192]1.25–1.72
rs17632542KLK3 Intergenic[199]0.62–0.76
rs242734520q13RBBP8NL Intergenic[186]0.94
rs6062509ZGPAT Intronic[186]0.89
rs575916722q13BIK Intergenic[190]1.14–1.20
rs5945619Xp11NUDT11 Intergenic[192,195]1.19–1.46
rs2405942Xp22SHROOM2 Intronic[186]0.88
rs5919432Xq12AR Intergenic[191]1.06–1.14

GWAS = genome-wide association studies; OR = odds ratio; SNP = single nucleotide polymorphism.
aORs are reported as a range across the various stages of GWAS discovery and validation when available.


  1. Amundadottir LT, Sulem P, Gudmundsson J, et al.: A common variant associated with prostate cancer in European and African populations. Nat Genet 38 (6): 652-8, 2006.  [PUBMED Abstract]

  2. Yeager M, Orr N, Hayes RB, et al.: Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet 39 (5): 645-9, 2007.  [PUBMED Abstract]

  3. Gudmundsson J, Sulem P, Manolescu A, et al.: Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet 39 (5): 631-7, 2007.  [PUBMED Abstract]

  4. Haiman CA, Patterson N, Freedman ML, et al.: Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet 39 (5): 638-44, 2007.  [PUBMED Abstract]

  5. Yeager M, Chatterjee N, Ciampa J, et al.: Identification of a new prostate cancer susceptibility locus on chromosome 8q24. Nat Genet 41 (10): 1055-7, 2009.  [PUBMED Abstract]

  6. Al Olama AA, Kote-Jarai Z, Giles GG, et al.: Multiple loci on 8q24 associated with prostate cancer susceptibility. Nat Genet 41 (10): 1058-60, 2009.  [PUBMED Abstract]

  7. Gudmundsson J, Sulem P, Steinthorsdottir V, et al.: Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet 39 (8): 977-83, 2007.  [PUBMED Abstract]

  8. Kote-Jarai Z, Olama AA, Giles GG, et al.: Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. Nat Genet 43 (8): 785-91, 2011.  [PUBMED Abstract]

  9. Eeles RA, Olama AA, Benlloch S, et al.: Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet 45 (4): 385-91, 391e1-2, 2013.  [PUBMED Abstract]

  10. Gudmundsson J, Sulem P, Rafnar T, et al.: Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. Nat Genet 40 (3): 281-3, 2008.  [PUBMED Abstract]

  11. Eeles RA, Kote-Jarai Z, Al Olama AA, et al.: Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet 41 (10): 1116-21, 2009.  [PUBMED Abstract]

  12. Schumacher FR, Berndt SI, Siddiq A, et al.: Genome-wide association study identifies new prostate cancer susceptibility loci. Hum Mol Genet 20 (19): 3867-75, 2011.  [PUBMED Abstract]

  13. Eeles RA, Kote-Jarai Z, Giles GG, et al.: Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet 40 (3): 316-21, 2008.  [PUBMED Abstract]

  14. Gudmundsson J, Sulem P, Gudbjartsson DF, et al.: Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility. Nat Genet 41 (10): 1122-6, 2009.  [PUBMED Abstract]

  15. Thomas G, Jacobs KB, Yeager M, et al.: Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet 40 (3): 310-5, 2008.  [PUBMED Abstract]

  16. Teerlink CC, Thibodeau SN, McDonnell SK, et al.: Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease. Hum Genet 133 (3): 347-56, 2014.  [PUBMED Abstract]

  17. Chung CC, Ciampa J, Yeager M, et al.: Fine mapping of a region of chromosome 11q13 reveals multiple independent loci associated with risk of prostate cancer. Hum Mol Genet 20 (14): 2869-78, 2011.  [PUBMED Abstract]

  18. Sun J, Zheng SL, Wiklund F, et al.: Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12. Nat Genet 40 (10): 1153-5, 2008.  [PUBMED Abstract]

  19. Berndt SI, Sampson J, Yeager M, et al.: Large-scale fine mapping of the HNF1B locus and prostate cancer risk. Hum Mol Genet 20 (16): 3322-9, 2011.  [PUBMED Abstract]

  20. Kote-Jarai Z, Amin Al Olama A, Leongamornlert D, et al.: Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript. Hum Genet 129 (6): 687-94, 2011.  [PUBMED Abstract]