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rs2285053

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 2 lower risk (by about 1/2) of lumbar disc disease (based on one 1 Chinese study)
(T;T) 2 lower risk (by about 1/2) of lumbar disc disease (based on one 1 Chinese study)


Make rs2285053(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position55478465
GeneMMP2
is asnp
is mentioned by
dbSNPrs2285053
dbSNP (old)rs2285053
ClinGenrs2285053
ebirs2285053
HLIrs2285053
Exacrs2285053
Gnomadrs2285053
Varsomers2285053
Maprs2285053
PheGenIrs2285053
Biobankrs2285053
1000 genomesrs2285053
hgdprs2285053
ensemblrs2285053
gopubmedrs2285053
geneviewrs2285053
scholarrs2285053
googlers2285053
pharmgkbrs2285053
gwascentralrs2285053
openSNPrs2285053
23andMers2285053
23andMe allrs2285053
SNPshotrs2285053
SNPdbers2285053
MSV3drs2285053
GWAS Ctlgrs2285053
GMAF0.1726
Max Magnitude2

rs2285053, also known as -735C>T, represents a variant in the promoter of the MMP2 gene on chromosome 16.

A study of ~1000 Han Chinese patients with lumbar disc disease concluded that rs2285053(T) carriers were at lower risk for the disorder.[PMID 23852912OA-icon.png]


[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 17958893OA-icon.png] Functional polymorphisms in the promoter regions of MMP2 and MMP3 are not associated with melanoma progression.


[PMID 19454611OA-icon.png] Matrix metalloproteinase-2 polymorphisms and breast cancer susceptibility.


[PMID 20113256] Matrix metalloproteinase-7 (MMP-7) polymorphism is a risk factor for endometrial cancer susceptibility.


[PMID 20157405OA-icon.png] Matrix Metallopeptidase 2 Gene Polymorphism is Associated with Obesity in Korean Population.


[PMID 23801889OA-icon.png] Genetic Polymorphisms of Matrix Metalloproteinases and Clinical Outcomes in Colorectal Cancer Patients


[PMID 23242659] Effect of metabolic syndrome risk factors and MMP-2 genetic variations on circulating MMP-2 levels in childhood obesity.


[PMID 26551785OA-icon.png] Polymorphisms in the Promoters of the MMP-2 and TIMP-2 Genes Are Associated with Spontaneous Deep Intracerebral Hemorrhage in the Taiwan Population


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


[PMID 28750369] Matrix Metalloproteinase Polymorphisms in Patients with Floppy Mitral Valve/Mitral Valve Prolapse (FMV/MVP) and FMV/MVP Syndrome.