rs2285053
Orientation | plus |
Stabilized | plus |
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) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 55478465 |
Gene | MMP2 |
is a | snp |
is | mentioned by |
dbSNP | rs2285053 |
dbSNP (classic) | rs2285053 |
ClinGen | rs2285053 |
ebi | rs2285053 |
HLI | rs2285053 |
Exac | rs2285053 |
Gnomad | rs2285053 |
Varsome | rs2285053 |
LitVar | rs2285053 |
Map | rs2285053 |
PheGenI | rs2285053 |
Biobank | rs2285053 |
1000 genomes | rs2285053 |
hgdp | rs2285053 |
ensembl | rs2285053 |
geneview | rs2285053 |
scholar | rs2285053 |
rs2285053 | |
pharmgkb | rs2285053 |
gwascentral | rs2285053 |
openSNP | rs2285053 |
23andMe | rs2285053 |
SNPshot | rs2285053 |
SNPdbe | rs2285053 |
MSV3d | rs2285053 |
GWAS Ctlg | rs2285053 |
GMAF | 0.1726 |
Max Magnitude | 2 |
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 23852912]
[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 17958893] Functional polymorphisms in the promoter regions of MMP2 and MMP3 are not associated with melanoma progression.
[PMID 19454611] 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 20157405] Matrix Metallopeptidase 2 Gene Polymorphism is Associated with Obesity in Korean Population.
[PMID 23801889] 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 26551785] 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.
[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.