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rs679620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 1 higher risk for Achilles tendinopathy?
Make rs679620(A;A)
Make rs679620(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position102842889
GeneMMP3
is asnp
is mentioned by
dbSNPrs679620
ebirs679620
HLIrs679620
Exacrs679620
Varsomers679620
Maprs679620
PheGenIrs679620
hapmaprs679620
1000 genomesrs679620
hgdprs679620
ensemblrs679620
gopubmedrs679620
geneviewrs679620
scholarrs679620
googlers679620
pharmgkbrs679620
gwascentralrs679620
openSNPrs679620
23andMers679620
23andMe allrs679620
SNP Nexus

SNPshotrs679620
SNPdbers679620
MSV3drs679620
GWAS Ctlgrs679620
GMAF0.3714
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
MMP3-K45E
aa_change Lys45Glu
aa_change_short K45E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.548057
summary



[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