rs4245739

This is a 3 prime utr variant variant in the MDM4 gene.

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GWAS Catalog Trait Associations (4)

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

prostate carcinoma

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 A
OR 1.09
p 2.0e-29
N 234,253
Meta-analysisLarge GWAS
multi-ancestry
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 A
OR 1.10
p 3.0e-24
N 140,254
Large GWAS
European
Eeles RA et al. “Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.” Nature Genetics 45(4):385-91, 391e1-2 (2013)
Allele A
OR 1.10
p 2.0e-11
N 22,548
Large GWAS
European

estrogen-receptor negative breast cancer

Milne RL et al. “Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.” Nature Genetics 49(12):1767-1778 (2017)
Allele C
OR 1.14
p 3.0e-23
N 72,261
Large GWAS
European

diastolic blood pressure

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele C
OR 0.01
p 2.0e-14
N 1,212,859
Large GWAS
European
Ehret GB et al. “The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.” Nature Genetics 48(10):1171-1184 (2016)
Allele C
OR 0.24
p 5.0e-9
N 201,529
Large GWAS
European

uterine fibroid

Kim J et al. “Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.” Nature Communications 16(1):2273 (2025)
Allele A
OR 0.05
p 2.0e-8
N 709,132
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (2)

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MDM4 SNP34091 (rs4245739) and its effect on breast‐, colon‐, lung‐, and prostate cancer risk
AssociationN=10,826Liv B. Gansmo et al.(2015)· Cancer Medicine

Population-based case-control study of 7,079 cancer cases and 3,747 controls examined MDM4 SNP34091 (rs4245739) associations with breast, colon, lung, and prostate cancer risk. MDM4 SNP34091C was associated with marginally reduced breast cancer risk in recessive model (OR=0.77, 95% CI=0.59-0.99), and more strongly reduced risk when combined with MDM2 SNP309GG genotype (OR=0.41, 95% CI=0.21-0.82). No significant associations were found for colon, lung, or prostate cancer.

Traits studied:Breast cancerColon cancerLung 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

About MDM4

This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011]

View all MDM4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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