MMP1, matrix metallopeptidase 1, 4312

N. diseases: 589; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 AlteredExpression disease BEFREE The up-regulation of MMP1 and MMP9 was the main change associated with COPD. 20970515 2011
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 GeneticVariation disease BEFREE Polymorphisms in MMP2 and MMP9 but not in MMP1 and MMP12 are associated with the risk of COPD in the Mexican mestizo population. 26439471 2015
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 Biomarker disease BEFREE In contrast, 8/12 genes (early growth response factor 1, MMP1, MMP9, MMP10, plasminogen activator urokinase, plasminogen activator urokinase receptor, tumor necrosis factor, and IL13) increased and 4/12 (MMP2, tissue inhibitor of matrix metalloproteinase-1, collagen 1alpha1, and transforming growth factor-beta3) decreased in the surrounding lung tissue in association with progression of COPD. 20075389 2010
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 Biomarker disease HPO
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 Biomarker disease BEFREE SIRT1 redresses the imbalance of tissue inhibitor of matrix metalloproteinase-1 and matrix metalloproteinase-9 in the development of mouse emphysema and human COPD. 24039251 2013
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 AlteredExpression disease LHGDN Activation of the MMP-1 promoter by cigarette smoke in human small airway epithelial cells requires ERK MAP kinase signaling: differential response of the 1G and 2G promoter sequences. 16921115 2006
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 GeneticVariation disease BEFREE In this report, we performed Meta analysis to investigate the association between four kinds of MMP single nucleotide polymorphisms (SNP, MMP1 -1607 1G/2G, MMP3 -1171 5A/6A, MMP9 -1562 C/T, MMP12 -82 A/G) and COPD risk from 21 studies including 4184 cases and 5716 controls. 24085258 2013
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 GeneticVariation disease BEFREE Polymorphisms in MMP1 were not consistently associated with prevalent COPD or incident NSCLC nor with survival in NSCLC. 22993337 2012
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 GeneticVariation disease BEFREE Here we review evidence that genetic polymorphisms in matrix metalloproteinase genes MMP1, MMP9 and MMP12 may be important in the development of COPD. 12383023 2002
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 GeneticVariation disease BEFREE When stratified by ethnicity, results indicated MMP-1 -1607G/GG (recessive model: G/G vs G/GG+GG/GG; OR: 1.20; 95% CI: 1.01-1.44; p = 0.04) and MMP-9 -1562 C/T (dominant model; OR: 1.66; 95% CI: 1.01-2.71; p = 0.04) were correlated with COPD susceptibility among Caucasians and Asians respectively. 23555986 2013
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 GeneticVariation disease BEFREE We also found that the chronic obstructive pulmonary disease (COPD)-predisposing TRPV4P19S variant enhances Ca2+ influx and MMP 1 activation, providing mechanistic linkage between man-made air pollution and human airway disease. 21245013 2011
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 GeneticVariation disease BEFREE However, MMP-1 rs1799750 1G > 2G and MMP-3 rs3025058 5A > 6A were not associated with COPD risk (all P > 0.05). 27173221 2016
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 GeneticVariation disease BEFREE No significant associations were found between genetic variations in MMP-1 and MMP-2 variants and the risk of development of COPD. 27412345 2016
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 Biomarker disease CTD_human
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 Biomarker disease RGD The MMP-1 mRNA expression level was obviously higher in the COPD of CDS group than in the COPD model group (P < 0.01). 23173262 2012
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 AlteredExpression disease BEFREE TLR4 protein contributes to cigarette smoke-induced matrix metalloproteinase-1 (MMP-1) expression in chronic obstructive pulmonary disease. 21730072 2011
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 Biomarker disease BEFREE Serum levels of MMP-1,-7,-10-12 were significantly influenced by smoking, and MMP-1, -3, -7 and-12 were elevated in subjects with COPD and carotid plaque. 30789935 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.900 GeneticVariation disease BEFREE To investigate the association of 3 polymorphisms of MMP genes (MMP-1 -1607G-->GG, MMP-9 -1562C-->T and MMP-12 N357S), which have been reported to be associated with COPD-related phenotypes, with the risk of COPD in a Korean population. 20160424 2010
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.630 GermlineModifyingMutation disease ORPHANET
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.630 GeneticVariation disease BEFREE An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients. 24899116 2014
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.630 Biomarker disease BEFREE Type VII collagen is a substrate of MMP1 and an imbalance between its synthesis and degradation could conceivably worsen the RDEB phenotype. 18030675 2008