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rs17576

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome20
Position46011586
GeneMMP9
is asnp
is mentioned by
dbSNPrs17576
ebirs17576
HLIrs17576
Exacrs17576
Varsomers17576
Maprs17576
PheGenIrs17576
hapmaprs17576
1000 genomesrs17576
hgdprs17576
ensemblrs17576
gopubmedrs17576
geneviewrs17576
scholarrs17576
googlers17576
pharmgkbrs17576
gwascentralrs17576
openSNPrs17576
23andMers17576
23andMe allrs17576
SNP Nexus

SNPshotrs17576
SNPdbers17576
MSV3drs17576
GWAS Ctlgrs17576
Merged fromRs2664538
GMAF0.4495
Max Magnitude2
? (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 18046864OA-icon.png]

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 17893005OA-icon.png]

[PMID 18455130OA-icon.png] (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)

OMIM603932
DescINTERVERTEBRAL DISC DISEASE; IDD
Variant
Relatedalso
OMIM120361
DescMATRIX METALLOPROTEINASE 9; MMP9
Variant
Relatedalso
OMIM188061
DescTHROMBOSPONDIN II; THBS2
Variant
Relatedalso
[PMID 19633731OA-icon.png] 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 19906411OA-icon.png] Polymorphisms in MMP9 and SIPA1 are associated with increased risk of nodal metastases in early-stage cervical cancer


[PMID 20808730OA-icon.png] 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 17346338OA-icon.png] Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma.

[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

[PMID 18303200OA-icon.png] 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 18636124OA-icon.png] Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.

[PMID 18781223OA-icon.png] The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study.

[PMID 19064570OA-icon.png] Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk.

[PMID 19357773OA-icon.png] Common variants of inflammatory cytokine genes are associated with risk of nephropathy in type 2 diabetes among Asian Indians.

[PMID 19898635OA-icon.png] Investigation of the association between CALCRL polymorphisms and primary angle closure glaucoma.

[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 20181264OA-icon.png] MMP-9 gene variants increase the risk for non-atopic asthma in children.

[PMID 20529372OA-icon.png] Matrix metalloproteinase-9 gene polymorphisms in nasal polyposis.

[PMID 21048031OA-icon.png] 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 21150032OA-icon.png] Complex genetic mechanisms in glaucoma: an overview.

[PMID 21844877] Matrix metalloproteinase-9 genetic variations affect MMP-9 levels in obese children.


GET Evidence
MMP9-Q279R
aa_change Gln279Arg
aa_change_short Q279R
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.346347
summary



[PMID 23441116OA-icon.png] Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in a Pakistani population


[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 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.