rs11568818

This variant is located in the MMP7 gene.

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GWAS Catalog Trait Associations (3)

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

prostate specific antigen amount

Hoffmann TJ et al. “Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups.” Nature Genetics 57(2):334-344 (2025)
Allele T
OR 0.04
p 3.0e-82
N 392,522
Large GWAS
multi-ancestry
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 T
OR 0.04
p 1.0e-39
N 254,502
Major Consortium StudyLarge GWAS
European

prostate carcinoma

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 T
OR 1.07
p 2.0e-38
N 944,762
Large GWAS
multi-ancestry
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 T
OR 0.06
p 1.0e-14
N 573,692
Major Consortium StudyLarge GWAS
multi-ancestry
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 T
OR 1.08
p 4.0e-26
N 234,253
Meta-analysisLarge GWAS
multi-ancestry
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 T
OR 0.92
p 4.0e-8
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 T
OR 1.08
p 2.0e-19
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 T
OR 1.10
p 2.0e-11
N 22,548
Large 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 T
OR 0.07
p 6.0e-13
N 367,640
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (6)

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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
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Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts
AssociationN=2,288Ariadne Letra et al.(2012)· Birth Defects Research Part A: Clinical and Molecular Teratology

Association study of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts in Brazilian case-control (494 cases, 413 controls) and US family-based (881 families) cohorts. MMP3 rs522616 showed strong association with all clefts (P=0.00002), cleft lip/palate (P=0.0009), and cleft palate (P=0.006). TIMP2 rs8179096 associated with all clefts (P=0.004), cleft lip/palate (P=0.01), and cleft palate (P=0.02). Significant gene-gene interaction between MMP3-TIMP2 detected (P=0.000001).

Traits studied:Cleft lipCleft lip and palateCleft palateNonsyndromic oral clefts
PubMedDOIMetascience Observatory
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Replication study for reported SNP associations with breast cancer survival
AssociationN=6,307Alicia Beeghly-Fadiel et al.(2012)· Journal of Cancer Research and Clinical Oncology

Two-stage replication study of 9 SNPs in 8 genes previously associated with breast cancer survival in 6,307 Chinese women (Stage 1: 1,115 cases, Stage 2: 5,192 cases). MMP7 rs11225297 and MMP8 rs11225395 showed consistent associations with overall survival, with rare alleles conferring 20-40% improved survival (HR 0.4-0.6 and 0.6 for TT genotypes respectively, p<0.001).

Traits studied:Breast cancer survivalDisease-free survivalOverall survival
PubMedDOIMetascience Observatory
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Common variants at 8q24 are associated with prostate cancer risk in Taiwanese men
ReviewMarcelo Chen et al.(2010)· The Prostate

Systematic literature review of 22 GWAS studies identifying 53 SNPs in 29 genomic loci associated with aggressive and progressive prostate cancer, particularly in low-grade disease. Functional analysis of 21 SNPs revealed involvement in the MYC/POU5F1B pathway (rs1447295, rs6983267, rs4242382), androgen receptor pathway (rs17021918, rs10486567, rs7679673, rs2939244), and PSA/KLK3 biomarkers (rs2735839, rs10993994). SNPs were integrated with somatic copy number aberration data, with 17 SNPs found in regions of recurrent CNAs predictive of progression; notably, rs1447295 and 7 other SNPs cluster in 8q24 gain regions harboring MYC.

Traits studied:Aggressive prostate cancerBiochemical recurrenceGleason score upgradeLow-grade prostate cancerMetastatic prostate cancerProstate cancerProstate cancer progression
PubMedDOIMetascience Observatory
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Genetic polymorphisms in the MMP‐7 gene and breast cancer survival
AssociationN=1,079Alicia Beeghly‐Fadiel et al.(2009)· International Journal of Cancer

This population-based survival study of 1,079 Chinese breast cancer patients found that two common MMP-7 polymorphisms significantly predict breast cancer prognosis. Patients homozygous for the rs11568818 rare allele (G) had substantially worse overall survival (HR: 6.7, 95% CI: 2.4-18.6), while rs11225297 T allele carriers showed improved survival in a dose-response manner (AT: HR 0.7; TT: HR 0.3).

Traits studied:Breast cancer prognosisBreast cancer survivalDisease-free survivalOverall survival
PubMedDOIMetascience Observatory
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Association of genetic polymorphisms at 8q24 with the risk of prostate cancer in a Japanese population
ReviewNaoki Terada et al.(2008)· The Prostate

This systematic review identified 53 unique SNPs in 29 genomic loci associated with aggressive prostate cancer progression and poor outcomes from GWAS studies. Functional studies implicated 21 SNPs as modulating the androgen receptor pathway, MYC oncogene, and PSA-related genes, with rs1447295 and rs10993994 being replicated across multiple populations and associated with unfavorable pathological features in low-grade prostate cancer.

Traits studied:Biochemical recurrenceGleason score upgradeMetastasisPSA recurrenceProstate cancer aggressivenessProstate cancer progression
PubMedDOIMetascience Observatory

About MMP7

This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal hemopexin domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes on chromosome 11. This gene exhibits elevated expression levels in multiple human cancers. [provided by RefSeq, Jan 2016]

View all MMP7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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