rs679620
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (G;G) | 1 | higher risk for Achilles tendinopathy? |
| Make rs679620(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 102842889 |
| Gene | MMP3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs679620 |
| dbSNP (classic) | rs679620 |
| ClinGen | rs679620 |
| ebi | rs679620 |
| HLI | rs679620 |
| Exac | rs679620 |
| Gnomad | rs679620 |
| Varsome | rs679620 |
| LitVar | rs679620 |
| Map | rs679620 |
| PheGenI | rs679620 |
| Biobank | rs679620 |
| 1000 genomes | rs679620 |
| hgdp | rs679620 |
| ensembl | rs679620 |
| geneview | rs679620 |
| scholar | rs679620 |
| rs679620 | |
| pharmgkb | rs679620 |
| gwascentral | rs679620 |
| openSNP | rs679620 |
| 23andMe | rs679620 |
| SNPshot | rs679620 |
| SNPdbe | rs679620 |
| MSV3d | rs679620 |
| GWAS Ctlg | rs679620 |
| GMAF | 0.3714 |
| Max Magnitude | 1 |
| ? | (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 19008710
]
[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 18303200] Matrix metalloproteinase-3 genotypes influence recovery from hepatitis B virus infection.
[PMID 18636124] Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.
[PMID 18727828] Ischemic stroke risk, smoking, and the genetics of inflammation in a biracial population: the stroke prevention in young women study.
[PMID 19064570] Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk.
[PMID 19318431] No association between matrix metalloproteinase-1 or matrix metalloproteinase-3 polymorphisms and breast cancer susceptibility: a report from the Shanghai Breast Cancer Study.
[PMID 19406964] Association of genetic variants with chronic kidney disease in Japanese individuals.
[PMID 19435861] No association between matrix metalloproteinase (MMP)-1, MMP-3, and MMP-7 SNPs and endometrial cancer risk.
[PMID 19487301] Genetic and environmental risks for high blood pressure among African American mothers and daughters.
[PMID 19551141] Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma.
[PMID 19729601] Candidate gene polymorphisms for ischemic stroke.
[PMID 20359947] A functional variant within the MMP3 gene does not associate with human range of motion.
[PMID 20622166] 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 22515887] Genetic susceptibility to periapical disease: conditional contribution of MMP2 and MMP3 genes to the development of periapical lesions and healing response.
[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 21859746] Genetic and BMI risks for predicting blood pressure in three generations of West African Dogon women.
[PMID 22671570] 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
| ClinVar | |
|---|---|
| Risk | Rs679620(G;G) |
| Alt | Rs679620(G;G) |
| Reference | Rs679620(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | MMP3 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000011.9:g.102713620T>C |
| CLNSRC | |
| CLNACC | RCV000454524.1, |
[PMID 30755371] Are MMP3, MMP8 and TIMP2 gene variants associated with anterior cruciate ligament rupture susceptibility?
[PMID 32607795] Association of the matrix metalloproteinase 3 (MMP3) single nucleotide polymorphisms with tendinopathies: case-control study in high-level athletes.
