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From SNPedia

Geno Mag Summary
(G;G) 1 higher risk for Achilles tendinopathy?
Make rs679620(A;A)
Make rs679620(A;G)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs679620
23andMe allrs679620
SNP Nexus

GWAS Ctlgrs679620
Max Magnitude1
? (A;A) (A;G) (G;G) 28

A study of 1418 African-American women and men from the Genetic Epidemiology Network of Arteriopathy study found a significant sex-specific interaction effect between rs679620, a SNP in the metallopeptidase 3 MMP3 gene and body mass index (BMI) in African-American women but not men (p = 0.0009). rs679620 appears to have a protective effect on diastolic blood pressure in women with high BMI, but surprisingly, it had the opposite effect on women with low BMI, resulting in higher diastolic BP.[PMID 19008710OA-icon.png]

[PMID 19042922] A relatively small study (~100 patients) found associations between risk for Achilles tendinopathy and SNPs in the MMP3 gene. For rs679620, the (G;G) genotype had an odds ratio of 2.5 (CI: 1.2 - 4.90, p = 0.010). An interaction resulting in increased risk for Achilles tendinopathy was also reported between the rs679620(G) and COL5A1 rs12722(T) alleles (p = 0.006).

[PMID 21753786] Influence of variations across the MMP-1 and -3 genes on the serum levels of MMP-1 and -3 and disease activity in rheumatoid arthritis.

[PMID 15748780] Genetic association between matrix metalloproteinase MMP-9 and MMP-3 polymorphisms and Japanese sporadic Alzheimer's disease.

[PMID 18303200OA-icon.png] Matrix metalloproteinase-3 genotypes influence recovery from hepatitis B virus infection.

[PMID 18636124OA-icon.png] Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.

[PMID 18727828OA-icon.png] Ischemic stroke risk, smoking, and the genetics of inflammation in a biracial population: the stroke prevention in young women study.

[PMID 19064570OA-icon.png] Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk.

[PMID 19318431OA-icon.png] No association between matrix metalloproteinase-1 or matrix metalloproteinase-3 polymorphisms and breast cancer susceptibility: a report from the Shanghai Breast Cancer Study.

[PMID 19406964OA-icon.png] Association of genetic variants with chronic kidney disease in Japanese individuals.

[PMID 19435861OA-icon.png] No association between matrix metalloproteinase (MMP)-1, MMP-3, and MMP-7 SNPs and endometrial cancer risk.

[PMID 19487301OA-icon.png] Genetic and environmental risks for high blood pressure among African American mothers and daughters.

[PMID 19551141OA-icon.png] Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma.

[PMID 19729601OA-icon.png] Candidate gene polymorphisms for ischemic stroke.

[PMID 20359947] A functional variant within the MMP3 gene does not associate with human range of motion.

[PMID 20622166OA-icon.png] Combined effect of inflammatory gene polymorphisms and the risk of ischemic stroke in a prospective cohort of subjects with type 2 diabetes: a Go-DARTS study.

[PMID 21410539] Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture.

[PMID 22175304] Matrix metalloproteinase-3 gene polymorphisms are associated with ischemic stroke.

[PMID 22515887OA-icon.png] Genetic susceptibility to periapical disease: conditional contribution of MMP2 and MMP3 genes to the development of periapical lesions and healing response.

GET Evidence
aa_change Lys45Glu
aa_change_short K45E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.548057

[PMID 22776467] Age at onset of rheumatoid arthritis: association with polymorphisms in the vascular endothelial growth factor A(VEGFA) gene and an intergenic locus between matrix metalloproteinase (MMP) 1 and 3 genes

[PMID 23926017] [Association of matrix metalloproteinase-3 gene polymorphisms with subtypes of ischemic stroke]

[PMID 21859746OA-icon.png] Genetic and BMI risks for predicting blood pressure in three generations of West African Dogon women.

[PMID 22671570OA-icon.png] MMP3 and TIMP1 variants contribute to chronic periodontitis and may be implicated in disease progression.

[PMID 26191285] Gene polymorphism of IL-6 and MMP-3 decreases passive range of motion after rotator cuff repair