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rs2250889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 1.69x higher risk for lung cancer
(C;G) 1.46x higher risk for lung cancer
(G;G) normal risk
ReferenceGRCh38 38.1/141
Chromosome20
Position46013767
GeneMMP9, TRIM78P
is asnp
is mentioned by
dbSNPrs2250889
ebirs2250889
HLIrs2250889
Exacrs2250889
Varsomers2250889
Maprs2250889
PheGenIrs2250889
hapmaprs2250889
1000 genomesrs2250889
hgdprs2250889
ensemblrs2250889
gopubmedrs2250889
geneviewrs2250889
scholarrs2250889
googlers2250889
pharmgkbrs2250889
gwascentralrs2250889
openSNPrs2250889
23andMers2250889
23andMe allrs2250889
SNP Nexus

SNPshotrs2250889
SNPdbers2250889
MSV3drs2250889
GWAS Ctlgrs2250889
GMAF0.1543
Max Magnitude0
? (C;C) (C;G) (G;G) 28
rs2250889, a SNP also known as P574R, is located in the MMP9 gene.

In a study of 744 Chinese patients with incident lung cancer rs2250889(C;G) heterozygotes and rs2250889(C;C) homozygotes had 1.46-fold (CI: 0.94-2.26) and 1.69-fold elevated risk (CI: 1.10-2.60) for lung cancer, respectively, compared with the (G;G) genotype. There was an additive effect of having additional MMP9 risk alleles.[PMID 16061858]


[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 22113040] [Study on association between single nucleotide polymorphisms of MMP7, MMP8, MMP9 genes and development of gastric cancer and lymph node metastasis]


[PMID 22621753] Higher risk of matrix metalloproteinase (MMP-2, 7, 9) and tissue inhibitor of metalloproteinase (TIMP-2) genetic variants to gallbladder cancer


[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 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 18512818] Association of a nonsynonymous single-nucleotide polymorphism of matrix metalloproteinase 9 with giant cell arteritis.


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


[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.


GET Evidence
MMP9-R574P
aa_change Arg574Pro
aa_change_short R574P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.917922
summary



[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]