rs188140481

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (3)

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

prostate cancer

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele A
OR 1.04
p 4.0e-40
N 151,994
Large GWAS
European
Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)
Allele A
OR 1.63
p 3.0e-34
N 208,808
Large GWAS
European

prostate carcinoma

Gudmundsson J et al. “A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.” Nature Genetics 44(12):1326-9 (2012)
Allele A
OR 2.90
p 6.0e-34
N 59,585
Large GWAS
European
Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)
Allele A
OR 1.63
p 2.0e-15
N 208,768
Large GWAS
European

prostate cancer, family history

Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)
Allele A
OR 0.64
p 8.0e-25
N 394,258
Large GWAS
European
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ClinVar annotation

Association
1 submitter1 publication

Familial prostate cancer

View on ClinVar →
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Research that mentions this SNP (2)

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Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21
AssociationN=3,893Teerlink CC et al.(2016)· Human Genetics

This genome-wide association study of 2511 familial prostate cancer cases and 1382 controls identified significant associations in six regions previously linked to prostate cancer risk. Most notably, rs138042437 at 8q24.21 achieved an exceptionally large effect size (OR=13.3, p=1.7e-8) and demonstrated strong co-segregation with disease in 116 affected relatives (p=8.5e-11). The study identified a rare segregating haplotype at 8q24.21 containing three SNPs (rs183373024, rs188140481, rs138042437) that characterized a prostate cancer predisposition locus.

Traits studied:Aggressive prostate cancerFamilial prostate cancerProstate cancer
PubMedDOIMetascience 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)
PubMedDOIMetascience Observatory

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

Gene information from NCBI Gene. Variant classifications from ClinVar.

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