Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799750
rs1799750
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 GeneticVariation BEFREE We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-1171 5A/6A, rs3025058), and MMP-12 (-82AG, rs2276109, and 1082A/G, rs652438) and the risk of lung cancer in 2014 Caucasian lung cancer patients and 1323 healthy controls. 16311244

2006

dbSNP: rs1799750
rs1799750
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-1171 5A/6A, rs3025058), and MMP-12 (-82AG, rs2276109, and 1082A/G, rs652438) and the risk of lung cancer in 2014 Caucasian lung cancer patients and 1323 healthy controls. 16311244

2006

dbSNP: rs1799750
rs1799750
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-1171 5A/6A, rs3025058), and MMP-12 (-82AG, rs2276109, and 1082A/G, rs652438) and the risk of lung cancer in 2014 Caucasian lung cancer patients and 1323 healthy controls. 16311244

2006

dbSNP: rs1799750
rs1799750
CUI: C0042345
Disease: Varicosity
Varicosity
0.010 GeneticVariation BEFREE Genotyping for the presence of the polymorphisms -1607dupG (rs1799750) in MMP1 and -1171dupA (rs3025058) in the MMP3 promoter region was performed using PCR and restriction-fragment length polymorphism assays in a group of 109 patients diagnosed with varicose veins and 112 healthy controls. 19508478

2009

dbSNP: rs1799750
rs1799750
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
0.010 GeneticVariation BEFREE Functional gene polymorphisms of these MMPs such as MMP1 -1607 1G/2G (rs1799750), MMP2 -1306 C/T (rs243865), MMP2 -1575 G/A (rs243866), and MMP9 Q279R (rs17576) are thus plausible candidates as risk factors for open angle glaucomas. 20808730

2010

dbSNP: rs1799750
rs1799750
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
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
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
CUI: C0005695
Disease: Bladder Neoplasm
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
CUI: C0699885
Disease: Carcinoma of bladder
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: rs1799750
rs1799750
CUI: C0024031
Disease: Low Back Pain
Low Back Pain
0.010 GeneticVariation BEFREE Our findings suggest that the MMP1 rs1799750 2G/2G genotype may contribute to low back pain, sciatica, and disability after lumbar disk herniation. 23370084

2013

dbSNP: rs1799750
rs1799750
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
0.010 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
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
0.010 GeneticVariation BEFREE The present study revealed a significant association of the MMP-1 -1607 1G/2G (rs1799750) gene promoter polymorphism with chronic pancreatitis, and it can be considered a biological marker in the etiology of chronic pancreatitis. 23644943

2013

dbSNP: rs1799750
rs1799750
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis
0.010 GeneticVariation BEFREE Matrix metalloproteinase-1 promoter -1607 1G/2G (rs1799750) polymorphism may have no effect on the disease susceptibility of CP in Caucasian, Asian and Brazilian mixed populations. 24134675

2013

dbSNP: rs1799750
rs1799750
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.010 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
CUI: C0019270
Disease: Hernia
Hernia
0.010 GeneticVariation BEFREE A total of 260 patients with lumbar disk herniation and sciatic pain were included in this study and genotyped for the MMP1 rs1799750 2G allele. 23370084

2013

dbSNP: rs1799750
rs1799750
CUI: C0030193
Disease: Pain
Pain
0.010 GeneticVariation BEFREE A total of 260 patients with lumbar disk herniation and sciatic pain were included in this study and genotyped for the MMP1 rs1799750 2G allele. 23370084

2013

dbSNP: rs1799750
rs1799750
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration
0.010 GeneticVariation BEFREE In this study, we examined whether the MMP1 rs1799750 2G allele might be associated with disk degeneration and clinical outcome after lumbar disk herniation. 23370084

2013

dbSNP: rs1799750
rs1799750
CUI: C0005695
Disease: Bladder Neoplasm
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
CUI: C1956346
Disease: Coronary Artery 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
CUI: C0699885
Disease: Carcinoma of bladder
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
CUI: C0409959
Disease: Osteoarthritis, Knee
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
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
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
0.010 GeneticVariation BEFREE No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (MMP1), rs3918242 (MMP9), rs486055 (MMP10), rs2276109 (MMP12), rs2252070 (MMP13), rs4898 (TIMP1) or rs9619311 (TIMP3). 23813847

2014

dbSNP: rs1799750
rs1799750
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE Analysis of the Association of Matrix Metalloproteinase-1 Gene Promoter (rs1799750) Polymorphism and Risk of Ovarian Cancer. 25950130

2015

dbSNP: rs1799750
rs1799750
CUI: C0003165
Disease: Anthracosis
Anthracosis
0.010 GeneticVariation BEFREE We investigated the association of three functional polymorphisms in MMP gene promoters (MMP1 rs1799750, MMP2 rs2285053 and MMP3 rs522616) with the risk of CWP. 26528997

2015