rs486055

This is a protein-altering variant in the MMP10 gene.

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GWAS Catalog Trait Associations (4)

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

matrix metalloproteinase 10 measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele T
OR 0.34
p 9.0e-142
N 21,758
Large GWAS
European
Hillary RF et al. “Multi-method genome- and epigenome-wide studies of inflammatory protein levels in healthy older adults.” Genome Medicine 12(1):60 (2020)
Allele T
OR 0.41
p 2.0e-11
N 982
Small GWAS
European

stromelysin-2 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.35
p 2.0e-75
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.320
p 1.0e-21
N 3,301
Large GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.24
p 8.0e-22
N 5,360
Large GWAS
European
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Research that mentions this SNP (2)

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Exploring new genetic variants within COL5A1 intron 4‐exon 5 region and TGF‐β family with risk of anterior cruciate ligament ruptures
ReviewN=9,720Mary‐Jessica N. Laguette et al.(2020)· Journal of Orthopaedic Research

This systematic review analyzed 24 studies examining 31 genes and 62 genetic variants associated with anterior cruciate ligament rupture (ACLR). Key findings show mixed evidence for collagen variants: COL1A1 rs1800012 showed protective association in European ancestry populations (OR=2.8, p=0.040), while COL1A2 rs42524 and rs2621215 conferred increased risk (OR=5.73 and 4.29 respectively). VEGFA polymorphisms rs2010963 and rs699947 showed conflicting associations across studies, and most major variants in IL6, IL1B, MMP genes, and inflammatory markers showed no consistent associations with ACLR across populations, highlighting the need for gender and ancestry-stratified analyses.

Traits studied:Anterior cruciate ligament injury (ACLI)Anterior cruciate ligament rupture (ACLR)
PubMedDOIMetascience Observatory
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Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populations
AssociationN=890Colleen J. Saunders et al.(2013)· Journal of Orthopaedic Research

PhD dissertation examining genetic variants in collagen genes (COL22A1, COL27A1, COL11A1) and anterior cruciate ligament injury risk in Polish athletes. Paper 1 is a systematic review of genetic determinants of ACL rupture. Papers 2 and 3 are case-control association studies finding no significant associations between SNPs rs11784270/rs6577958 (COL22A1), rs946053 (COL27A1), and rs3753841 (COL11A1) and non-contact ACL injury risk in Polish athletes.

Traits studied:ACL ruptureAnterior cruciate ligament injuryNon-contact ACL injury
PubMedDOIMetascience Observatory

About MMP10

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 fibronectin, laminin, elastin, proteoglycan core protein, gelatins, and several types of collagen. The gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]

View all MMP10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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