rs17576
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | normal risk for lung cancer; higher risk for MI |
| (A;G) | 2 | higher risk for MI and lung cancer, and COPD in smokers |
| (G;G) | 2 | higher risk for lung cancer, and COPD in smokers; normal risk for MI |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 46011586 |
| Gene | MMP9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17576 |
| dbSNP (classic) | rs17576 |
| ClinGen | rs17576 |
| ebi | rs17576 |
| HLI | rs17576 |
| Exac | rs17576 |
| Gnomad | rs17576 |
| Varsome | rs17576 |
| LitVar | rs17576 |
| Map | rs17576 |
| PheGenI | rs17576 |
| Biobank | rs17576 |
| 1000 genomes | rs17576 |
| hgdp | rs17576 |
| ensembl | rs17576 |
| geneview | rs17576 |
| scholar | rs17576 |
| rs17576 | |
| pharmgkb | rs17576 |
| gwascentral | rs17576 |
| openSNP | rs17576 |
| 23andMe | rs17576 |
| SNPshot | rs17576 |
| SNPdbe | rs17576 |
| MSV3d | rs17576 |
| GWAS Ctlg | rs17576 |
| Merged from | Rs2664538 |
| GMAF | 0.4495 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs17576, also known as Gln279Arg or Q279R, is a SNP in exon 6 of the matrix metalloproteinase-9 MMP9 gene. The rs17576(G) allele encodes the Arg (R).
In a study of 385 male veterans with greater than 20 pack-years of cigarette smoking, rs17576(G) allele carriers were at higher risk for chronic obstructive pulmonary disease (COPD). The rs17576(G;G) homozygous genotype was at 3-fold increased risk for COPD.[PMID 18046864
]
A study of 744 Chinese patients with lung cancer found that the rs17576(G;G) genotype was associated with higher risk of lung cancer with metastasis (adjusted OR, 1.79, CI: 1.03-3.08) compared to the (A;A) genotype.[PMID 16061858]
rs17576 is also 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 rs17576(A) allele was 1.15 (p=0.26), and for (A;A) homozygotes, 1.09 (p=0.33). 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 17893005]
[PMID 18455130] (IVS10-8C T; rs9406328) and (Q279R; rs17576) showed significant association with lumbar-disc herniation (odds ratio 3.03, 95% confidence interval 1.58-5.77)
[PMID 19633731] Association of the single nucleotide polymorphisms in the extracellular matrix metalloprotease-9 gene with PACG in southern China
[PMID 20144500] Matrix metalloproteinase-9 polymorphism and risk of pelvic organ prolapse in Taiwanese women
[PMID 19906411] Polymorphisms in MMP9 and SIPA1 are associated with increased risk of nodal metastases in early-stage cervical cancer
[PMID 20808730] Role of functional single nucleotide polymorphisms of MMP1, MMP2, and MMP9 in open angle glaucomas
[PMID 22107133] Elevated plasma matrix metalloproteinase-9 protein and its gene polymorphism in patients with community-acquired pneumonia
[PMID 22113040] [Study on association between single nucleotide polymorphisms of MMP7, MMP8, MMP9 genes and development of gastric cancer and lymph node metastasis]
[PMID 22664146] Association of matrix metalloproteinases (MMP2, MMP7 and MMP9) genetic variants with left ventricular dysfunction in coronary artery disease patients
[PMID 15748780] Genetic association between matrix metalloproteinase MMP-9 and MMP-3 polymorphisms and Japanese sporadic Alzheimer's disease.
[PMID 17110919] The association of single nucleotide polymorphisms in the MMP-9 genes with susceptibility to acute primary angle closure glaucoma in Taiwanese patients.
[PMID 17346338] Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18303200] Matrix metalloproteinase-3 genotypes influence recovery from hepatitis B virus infection.
[PMID 18512818] Association of a nonsynonymous single-nucleotide polymorphism of matrix metalloproteinase 9 with giant cell arteritis.
[PMID 18552608] Lack of association between the rs2664538 polymorphism in the MMP-9 gene and primary angle closure glaucoma in Singaporean subjects.
[PMID 18636124] Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.
[PMID 18781223] The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study.
[PMID 19064570] Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk.
[PMID 19357773] Common variants of inflammatory cytokine genes are associated with risk of nephropathy in type 2 diabetes among Asian Indians.
[PMID 19898635] Investigation of the association between CALCRL polymorphisms and primary angle closure glaucoma.
[PMID 20078883] 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 20181264] MMP-9 gene variants increase the risk for non-atopic asthma in children.
[PMID 20529372] Matrix metalloproteinase-9 gene polymorphisms in nasal polyposis.
[PMID 21048031] Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
[PMID 21150032] Complex genetic mechanisms in glaucoma: an overview.
[PMID 21844877] Matrix metalloproteinase-9 genetic variations affect MMP-9 levels in obese children.
[PMID 23441116] Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in a Pakistani population
[PMID 23819814] Association of Genetic Polymorphisms in Matrix Metalloproteinase-9 and Coronary Artery Disease in Chinese Han Population: A Case-Control Study
[PMID 22710194] MMP13 polymorphism decreases risk for dental caries.
[PMID 23010359] Functional matrix metalloproteinase (MMP)-9 genetic variants modify the effects of hemodialysis on circulating MMP-9 levels.
[PMID 25162123] MMP9 Gene Polymorphism is not Associated with Polypoidal Choroidal Vasculopathy and Neovascular Age-related Macular Degeneration in a Chinese Han Population
[PMID 23955812] Functional polymorphisms of matrix metalloproteinase-9 and survival in patients with locoregionally advanced nasopharyngeal carcinoma treated with chemoradiotherapy
[PMID 25711032] [Association of matrix metalloproteinases' polymorphisms of MMP3 and MMP9 with development of genital endometriosis]
[PMID 27620811] Associations between various possible promoter polymorphisms of MMPs genes and endometriosis risk: a meta-analysis.
| ClinVar | |
|---|---|
| Risk | Rs17576(G;G) |
| Alt | Rs17576(G;G) |
| Reference | Rs17576(A;A) |
| Significance | Non-pathogenic |
| Disease | Metaphyseal anadysplasia |
| Variation | info |
| Gene | MMP9 |
| CLNDBN | Metaphyseal anadysplasia |
| Reversed | 0 |
| HGVS | NC_000020.10:g.44640225A>G |
| CLNSRC | |
| CLNACC | RCV000299484.1, |
[PMID 30289281] Evaluation of Common Variants in Matrix Metalloproteinase-9 Gene with Lumbar Disc Herniation in Han Chinese Population.
[PMID 30557881] Cubilin Single Nucleotide Polymorphism Variants are Associated with Macroangiopathy While a Matrix Metalloproteinase-9 Single Nucleotide Polymorphism Flip-Flop may Indicate Susceptibility of Diabetic Nephropathy in Type-2 Diabetic Patients.
