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rs3918242

Chromosome : 20 , Position: 46007337
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.
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Reference AlleleC
Alternative Alleles:  T

Summary

This SNP increases gene production of MMP-9 and was associated with severity of heart hardening of the arteries.
  • One T allele=1.14X increased risk for heart attack (p=0.06) [R]
  • TT=1.33X increased risk for heart attack (p=0.19)[R]
  • One T= 9.1X increased breast cancer risk for whites and 3.6X increased breast cancer risk for mixed ethnicities [R]
  • T=increased blood pressure and aortic stiffness in a high blood pressure population (R).
  • T allele= increased plaque instability through increased degradation of the cellular structural support web (ECM).
  • Has been associated with heart failure (HF) and overall risk of dying (R).
This SNP is located in gene initiating (promoter) region. [PMID 19435423] Lack of Association Between Matrix Metalloproteinase-9 and Endothelial Nitric Oxide Synthase Gene Polymorphisms and Coronary Artery Disease in Turkish Population [PMID 20144500] Matrix metalloproteinase-9 polymorphism and risk of pelvic organ prolapse in Taiwanese women [PMID 20184534] Association of matrix metalloproteinase 9 genotypes and cardiovascular disease risk factors with serum matrix metalloproteinase 9 concentrations in Taiwanese individuals [PMID 20529372OA-icon.png] Matrix metalloproteinase-9 gene polymorphisms in nasal polyposis [PMID 21244504] Association of matrix metalloproteinase gene polymorphism with temporomandibular joint degeneration [PMID 21437990] Functional polymorphism of matrix metalloproteinase-9 (MMP-9) gene and response to lithium prophylaxis in bipolar patients [PMID 21717058] Update analysis of studies on the MMP-9 -1562 C>T polymorphism and cancer risk [PMID 22107133] Elevated plasma matrix metalloproteinase-9 protein and its gene polymorphism in patients with community-acquired pneumonia [PMID 16356191OA-icon.png] Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study. [PMID 17346338OA-icon.png] Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma. [PMID 18512818] Association of a nonsynonymous single-nucleotide polymorphism of matrix metalloproteinase 9 with giant cell arteritis. [PMID 18802702] Association of (-1,607) 1G/2G polymorphism of matrix metalloproteinase-1 gene with knee osteoarthritis in the Turkish population (knee osteoarthritis and MMPs gene polymorphisms). [PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II–endometriosis. [PMID 19664242OA-icon.png] Functional polymorphisms in matrix metalloproteinases -1, -3, -9 and -12 in relation to cervical artery dissection. [PMID 20078883OA-icon.png] Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population. [PMID 21161369] Current evidence on the relationship between four polymorphisms in the matrix metalloproteinases (MMP) gene and breast cancer risk: a meta-analysis. [PMID 21455563] Analysis of matrix metalloproteinase-9 gene polymorphism -1562 C/T in patients suffering from systemic sclerosis with and without ulcers. [PMID 21844877] Matrix metalloproteinase-9 genetic variations affect MMP-9 levels in obese children. [PMID 22304569] Functional polymorphism located in mmp-9 gene promoter is strongly associated with obesity. [PMID 23257253] Expression of matrix metalloproteinase-2 and matrix metalloproteinase-9 in recurrent chronic rhinosinusitis with nasal polyposis [PMID 23734748OA-icon.png] Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes [PMID 23813847] The association of genetic variants of matrix metalloproteinases with abdominal aortic aneurysm: a systematic review and meta-analysis [PMID 23819814OA-icon.png] Association of Genetic Polymorphisms in Matrix Metalloproteinase-9 and Coronary Artery Disease in Chinese Han Population: A Case-Control Study [PMID 23819551] Genetic polymorphisms in matrix metalloproteinases (MMPs) and tissue inhibitors of MPs (TIMPs), and bladder cancer susceptibility [PMID 24043671] A Functional Single Nucleotide Polymorphism -1562C>T in the Matrix Metalloproteinase-9 Promoter Is Associated With Type 2 Diabetes and Diabetic Foot Ulcers [PMID 24291031] Association of APOE, GCPII and MMP9 polymorphisms with common diseases and lipid levels in an older adult/elderly cohort [PMID 24357512] Gelatinase B (-1562C/T) polymorphism in tumor progression and invasion of breast cancer [PMID 23010359] Functional matrix metalloproteinase (MMP)-9 genetic variants modify the effects of hemodialysis on circulating MMP-9 levels. [PMID 23274712OA-icon.png] Genetic polymorphisms and the risk of myocardial infarction in patients under 45 years of age. [PMID 25738347] MMP-9 -1562 C>T () Promoter Polymorphism as a Susceptibility Factor for Multiple Gingival Recessions [PMID 26013370] Matrix Metalloproteinase-9 Polymorphism 1562 C > T () Associated with Protection Against Placental Malaria [PMID 26754027] Genetic polymorphisms in MMP 2, 3 and 9 genes and the susceptibility of osteosarcoma in a Chinese Han population.

More Information

This SNP increases gene production of MMP-9 and was associated with severity of heart hardening of the arteries.

  • One T allele=1.14X increased risk for heart attack (p=0.06) [R]
  • TT=1.33X increased risk for heart attack (p=0.19)[R]
  • One T= 9.1X increased breast cancer risk for whites and 3.6X increased breast cancer risk for mixed ethnicities [R]
  • T=increased blood pressure and aortic stiffness in a high blood pressure population (R).
  • T allele= increased plaque instability through increased degradation of the cellular structural support web (ECM).
  • Has been associated with heart failure (HF) and overall risk of dying (R).

 

Population Alleles Frequency

ethhicity frequency
African/African-American 0.1292
Latino/Admixed American 0.0696
Ashkenazi Jewish 0.1655
East Asian 0.1428
European 0.16
Other (population not assigned) 0.1563

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