rs5759167

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

cancer

Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)

Allele G

OR 1.14

p 2.0e-18

N 475,312

Large GWAS

European

prostate specific antigen amount

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.05

p 6.0e-17

N 401,453

Major Consortium StudyLarge GWAS

European

drug use measurement, prostate cancer

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.11

p 2.0e-11

N 293,201

Major Consortium StudyLarge GWAS

European

prostate cancer

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.11

p 5.0e-37

N 367,640

Major Consortium StudyLarge GWAS

multi-ancestry

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)

Allele G

OR 0.15

p 5.0e-18

N 151,994

Large GWAS

European

prostate carcinoma

Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)

Allele G

OR 1.15

p 1.0e-21

N 421,142

Large GWAS

European

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.12

p 8.0e-70

N 411,042

Major Consortium StudyLarge GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.10

p 2.0e-17

N 301,559

Large GWAS

multi-ancestry

Emami NC et al. “A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility.” Cancer Research 81(7):1695-1703 (2021)

Allele G

OR 1.16

p 4.0e-25

N 208,253

Large GWAS

European

Conti DV et al. “Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.” Nature Genetics 53(1):65-75 (2021)

Allele G

OR 1.14

p 2.0e-13

N 177,526

Meta-analysisLarge GWAS

European

Sato G et al. “Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis.” Nature Communications 14(1):3671 (2023)

Allele G

OR 0.88

p 3.0e-19

N 161,616

Large GWAS

European

Schumacher FR et al. “Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.” Nature Genetics 50(7):928-936 (2018)

Allele G

OR 1.15

p 6.0e-71

N 140,254

Large GWAS

European

Wang A et al. “Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants.” Nature Genetics 55(12):2065-2074 (2023)

Allele G

OR 1.13

p 9.0e-16

N 80,999

Large GWAS

African American or Afro-Caribbean

Hoffmann TJ et al. “A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.” Cancer Discovery 5(8):878-91 (2015)

Allele G

OR 1.13

p 2.0e-9

N 46,378

Large GWAS

multi-ancestry

Berndt SI et al. “Two susceptibility loci identified for prostate cancer aggressiveness.” Nature Communications 6:6889 (2015)

Allele G

OR 1.18

p 1.0e-16

N 7,541

Large GWAS

European

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Research that mentions this SNP (3)

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Associations of prostate cancer risk variants with disease aggressiveness: results of the NCI-SPORE Genetics Working Group analysis of 18,343 cases

AssociationN=18,343Brian T. Helfand et al.(2015)· Human Genetics

A case-case association study of 18,343 prostate cancer patients (16,515 European, 1,828 African-American) evaluating 36 validated PC-risk SNPs found that rs2735839 (G allele) on chromosome 19q13 in the KLK3 gene was significantly and inversely associated with aggressive disease and high Gleason scores in both populations (p = 9.343 × 10⁻⁸ overall, p = 1.042 × 10⁻⁵ European, p = 2.0 × 10⁻⁴ African-American).

Traits studied:Gleason scoreProstate cancer aggressivenessProstate cancer high-grade disease

PubMed DOI Metascience Observatory

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A genome-wide association study of prostate cancer in West African men

AssociationN=932Michael Blaise Cook et al.(2014)· Human Genetics

Genome-wide association study of 474 prostate cancer cases and 458 controls from West African men identified a novel prostate cancer susceptibility locus at 10p14 marked by rs7918885 (p=1.29×10⁻⁷), localized to an intron of the lncRNA gene RP11-543F8.2. A stratified analysis by Gleason score revealed additional associations including rs34575154 in PCDHA1 at 5q31.3 (p=3.66×10⁻⁸) for high-grade disease and rs985081 at Xq28 (p=8.66×10⁻⁹) for low-grade disease. Validation in the African Ancestry Prostate Cancer GWAS Consortium showed limited replication, with only rs2993385 at 10p14 reaching nominal significance (p<0.05), highlighting population-specific genetic architecture.

Traits studied:Prostate cancerProstate cancer (high-grade/Gleason score ≥7)Prostate cancer (low-grade/Gleason score <7)

PubMed DOI Metascience Observatory

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Prostate cancer risk‐associated variants reported from genome‐wide association studies: Meta‐analysis and their contribution to genetic Variation

Meta-analysisN=600,000Kim ST et al.(2010)· The Prostate

This meta-analysis of genome-wide association studies identified 30 prostate cancer risk-associated SNPs in Caucasian populations. The SNPs had odds ratios ranging from 1.12-1.47, except rs16901979 (OR=1.80). These 30 SNPs collectively explained approximately 13.5% of the total genetic variance in prostate cancer risk, with individual SNPs explaining 0.2-0.9% of variance.

Traits studied:Prostate cancer risk

PubMed DOI Metascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

rs5759167

GWAS Catalog Trait Associations (5)

cancer

prostate specific antigen amount

drug use measurement, prostate cancer

prostate cancer

prostate carcinoma

Research that mentions this SNP (3)

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