rs679620

Chromosome : 11 , Position: 102842889

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: T

Alternative Alleles: C

Associated Genes

MMP3

MMP1

MMP10

MMP12

CFAP300

MMP13

MMP8

MMP27

MMP20

DCUN1D5

DYNC2H1

MMP7

TMEM123

BIRC2

Summary

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

More Information

rs679620 is a SNP in the MMP3 gene. It has a higher risk for Achilles tendinopathy (AT).

T/C polymorphism appears to have a protective effect on diastolic blood pressure (BP) in women with high body mass index (BMI) [R].

The ''C'' allele significantly increases the risk of Achilles tendinopathy (AT) (p = 0.006) [R].

''C'' allele was associated with a risk of sporadic renal cell carcinoma (RCC) (OR 1.45) [R].

Carriers of the ''T'' allele were 1.55 times more susceptible to large artery atherosclerosis (LAA) stroke compared with carriers of CC alleles (P=0.042, OR=1.55) [R].

Population Alleles Frequency

ethhicity	frequency
African/African-American	0.6478
Latino/Admixed American	0.6781
Ashkenazi Jewish	0.6119
East Asian	0.6757
European	0.4966
Other (population not assigned)	0.5749

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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