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From SNPedia

Geno Mag Summary
(C;C) normal risk
(C;T) 1.14x increased risk for MI; also check haplotype
(T;T) 1.33x increased risk for MI; also check haplotype
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs3918242
1000 genomesrs3918242
GWAS Ctlgrs3918242
Max Magnitude0

rs3918242 is one of two SNPs in the MMP9 gene associated with increased risk for myocardial infarction, but not coronary artery disease. The relatively weak odds ratios for carriers of one rs3918242(T) allele was 1.14 (p=0.06), and for (T;T) homozygotes, 1.33 (p=0.19). However, this study of 5,000+ Caucasian patients with heart disease also indicated that a composite genotype (i.e. unphased haplotype) of the two MMP9 SNPs (rs3918242 and rs17576, respectively) yielded a significant odds ratio of 1.25 (CI: 1.07 - 1.48, p=0.007) for the (C;T)/(A;G) combination compared to (C;C)/(G;G) combination genotypes.[PMID 17893005OA-icon.png]

[PMID 18006768] This MMP9 SNP, located at -1,562 in the promoter region, was associated with further progression of breast cancer; in comparison to the (C;C) genotype, the odds ratio for the rs3918242(C;T) genotype was 3.6 for mixed ethnicities (CI: 1.2-11.1, p=0.001), and for Caucasians only, 9.1 (CI: 1.7-48.4, p=0.01).

[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 (rs3918242) Promoter Polymorphism as a Susceptibility Factor for Multiple Gingival Recessions

[PMID 26013370OA-icon.png] Matrix Metalloproteinase-9 Polymorphism 1562 C > T (rs3918242) 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.

[PMID 27620811] Associations between various possible promoter polymorphisms of MMPs genes and endometriosis risk: a meta-analysis.

[PMID 30132967] MMP-9 gene rs3918242 polymorphism increases risk of stroke: A meta-analysis.

[PMID 32471473OA-icon.png] Matrix metalloproteinases (MMPs) family gene polymorphisms and the risk of multiple sclerosis: systematic review and meta-analysis.