MMP1, matrix metallopeptidase 1, 4312

N. diseases: 589; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17878931
rs17878931
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs2075847
rs2075847
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs2075847
rs2075847
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0428472
Disease:
Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs2075847
rs2075847
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0392885
Disease:
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs781662103
rs781662103
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.030 GeneticVariation BEFREE The aim of presented work was to analyze the impact of particular polymorphic changes in the promoter regions of the -1607 1G/2G MMP1, -1562 C/T MMP9, -82 A/G MMP12, -511 C/T IL-1β, and 372 T/C TIMP1 genes on their expression level in POAG patients. 26120586 2015
dbSNP: rs781662103
rs781662103
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.030 GeneticVariation BEFREE Normal RA value was observed in patients with POAG group connected with the 372 T/C TIMP1 (anova, p < 0.05) and the -511 C/T IL-1β (anova, p < 0.05) genes polymorphisms occurrence. 23800300 2013
dbSNP: rs781662103
rs781662103
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.030 GeneticVariation BEFREE Association of MMP1-1607 1G/2G and TIMP1 372 T/C gene polymorphisms with risk of primary open angle glaucoma in a Polish population. 21709637 2011
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C1956346
Disease:
Coronary Artery Disease
0.020 GeneticVariation BEFREE This examination, as the first study of its own kind in Iranian Turks, reported association between MMP-1 (rs1799750) -1607 2G/2G and MMP-3 (rs3025058) -1612 6A/6A genotypes and CAD risk in patients older than 50 years. 31356534 2019
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0029408
Disease:
Degenerative polyarthritis
0.020 GeneticVariation BEFREE <b>Conclusion.</b> We systematically investigated the association between MMP-1-1607 (rs1799750) 1G/2G polymorphism and OA susceptibility; however, the results show no correlation. 30886066 2019
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0010068
Disease:
Coronary heart disease
0.020 GeneticVariation BEFREE Association of MMP-1 (rs1799750)-1607 2G/2G and MMP-3 (rs3025058)-1612 6A/6A Genotypes With Coronary Artery Disease Risk Among Iranian Turks. 31356534 2019
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0029408
Disease:
Degenerative polyarthritis
0.020 GeneticVariation BEFREE In conclusion, this case-control study confirms that <i>MMP-1</i> gene rs1799750 polymorphism increases the risk of knee OA in Chinese Han population. 30177524 2018
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0409959
Disease:
Osteoarthritis, Knee
0.020 GeneticVariation BEFREE The association between MMP-1 gene rs1799750 polymorphism and knee osteoarthritis risk. 30177524 2018
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.020 GeneticVariation BEFREE Subgroup analyses showed that the rs1799750 was significantly associated with primary angle closure glaucoma under homozygote (OR = 2.23, 95% CI 1.03-4.83, p = 0.043) and allelic (OR = 1.61, 95% CI 1.07-2.42, P = 0.021) models, while it was significantly associated with primary open angle glaucoma (OR = 1.64, 95% CI 1.05-2.56, p = 0.030) and exfoliation glaucoma (OR = 1.42, 95% CI 1.02-1.97, p = 0.036) under recessive models. 27428613 2017
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0010068
Disease:
Coronary heart disease
0.020 GeneticVariation BEFREE Thus, MMP-1 rs1799750 may be involved in the development of coexisting T2DM and CHD in the Han Chinese population. 27323171 2016
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0005695
Disease:
Bladder Neoplasm
0.020 GeneticVariation BEFREE The majority of the research described in the present mini-review proves that the genetic polymorphism in the MMP1 (rs1799750) is the most widely studied, and suggests that the rare genotype, 2G2G, of that gene might show increased susceptibility for bladder cancer, especially among smokers. 24635493 2014
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C1956346
Disease:
Coronary Artery Disease
0.020 GeneticVariation BEFREE Significantly more C-2G (rs498186-rs1799750) haplotypes (p=0.001 after Bonferroni corrections) were found in CAD subjects. 25372932 2014
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0699885
Disease:
Carcinoma of bladder
0.020 GeneticVariation BEFREE The majority of the research described in the present mini-review proves that the genetic polymorphism in the MMP1 (rs1799750) is the most widely studied, and suggests that the rare genotype, 2G2G, of that gene might show increased susceptibility for bladder cancer, especially among smokers. 24635493 2014
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0409959
Disease:
Osteoarthritis, Knee
0.020 GeneticVariation BEFREE The present study shows that MMP1 -1607 1G/2G (rs1799750) polymorphism might be a risk factor for knee osteoarthritis susceptibility in the Greek population. 24838892 2014
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.020 GeneticVariation BEFREE The majority of the research described in the present mini-review proves that the genetic polymorphism in the MMP1 (rs1799750) is the most widely studied, and suggests that the rare genotype, 2G2G, of that gene might show increased susceptibility for bladder cancer, especially among smokers. 24635493 2014
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.020 GeneticVariation BEFREE Our data suggest that the MMP1 rs1799750 (-1607 1G/2G) and MMP9 rs17576 polymorphisms might be of value for further study as potential gender-dependent risk factors for developing POAG and PACG, respectively, in Pakistan. 23441116 2013
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.020 GeneticVariation BEFREE To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (rs243865), MMP9 (rs3918242), MMP12 (rs2276109) and tissue inhibitors of MMPs (TIMPs) TIMP1 (rs2070584) and TIMP3 (rs9619311) genes that may be involved in susceptibility to bladder cancer (BC). 23819551 2013
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0005695
Disease:
Bladder Neoplasm
0.020 GeneticVariation BEFREE To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (rs243865), MMP9 (rs3918242), MMP12 (rs2276109) and tissue inhibitors of MMPs (TIMPs) TIMP1 (rs2070584) and TIMP3 (rs9619311) genes that may be involved in susceptibility to bladder cancer (BC). 23819551 2013
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0699885
Disease:
Carcinoma of bladder
0.020 GeneticVariation BEFREE To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (rs243865), MMP9 (rs3918242), MMP12 (rs2276109) and tissue inhibitors of MMPs (TIMPs) TIMP1 (rs2070584) and TIMP3 (rs9619311) genes that may be involved in susceptibility to bladder cancer (BC). 23819551 2013
dbSNP: rs1008478272
rs1008478272
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0029443
Disease:
Osteomyelitis
0.010 GeneticVariation BEFREE CTSG N125S (AG) genotype was significantly more frequent among osteomyelitis patients than controls (15.5% vs. 9.4%, p = 0.014). 31647805 2019
dbSNP: rs1799750
rs1799750
Entrez Id: 4312;100288077
Gene Symbol: MMP1;WTAPP1
MMP1;WTAPP1
CUI: C0263912
Disease:
Rotator cuff syndrome
0.010 GeneticVariation BEFREE In conclusion, a significant correlation was identified between the MMP-1 rs1799750 polymorphism</span> and RCT. 31652448 2019