rs679620

This is a variant in the MMP3 gene that changes a lysine to an glutamate.

▶

GWAS Catalog Trait Associations (1)

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

level of stromelysin-1 in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.52
p 3.0e-16
N 466
Small GWAS
African American or Afro-Caribbean
▶

ClinVar annotation

Benign★★★☆
3 submitters2 publications

not specified

View on ClinVar →
▶

Research that mentions this SNP (4)

▶
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
▶
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
▶
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
▶
Fine mapping and association studies in a candidate region for autism on chromosome 2q31–q32
AssociationN=585Judith Conroy et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A case-control study in a Russian population (285 type 1 diabetes patients, 300 controls) examining 58 SNPs across 47 genes involved in fibrogenesis, endothelial dysfunction, and inflammation. Seven SNPs showed significant association with T1D susceptibility: rs3765124 (ADAMDEC1 AA genotype, OR=1.79, p=0.004), rs1007856 (ITGB5 TT genotype, OR=1.67, p=0.015), rs20579 (LIG1 CC genotype, OR=1.86, p=0.004), rs12980602 (IFNL2 allele C, OR=1.49, p=0.029), rs4986819 (PARP4 allele C, OR=1.52, p=0.044), rs1143674 (ITGA4 GG genotype, OR=2.06, p=0.002), and rs679620 (MMP3 AA genotype, OR=2.03, p=0.008).

Traits studied:Type 1 diabetes
PubMedDOIMetascience Observatory

About MMP3

Proteins of the matrix metalloproteinase (MMP) 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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008]

View all MMP3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…