rs2276109, MMP12

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Forced expiratory volume function
CUI: C0016529
Disease: Forced expiratory volume function
0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
response to bronchodilator
CUI: C3548479
Disease: response to bronchodilator
0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.020 GeneticVariation BEFREE We found that -82G allele of SNP rs2276109 was associated with reduced risk of COPD, and COPD patients released more MMP-12 than healthy individuals, but independently on this SNP. 30658596 2019
Asthma
CUI: C0004096
Disease: Asthma
0.020 GeneticVariation BEFREE Due to limited information on this topic in the literature, we aimed to explore the possible role of polymorphisms in the promoter region of the macrophage elastase gene MMP12 82A>G (rs2276109) as a predisposing factor for BA in an ethnic Bulgarian population. 29390099 2018
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.020 GeneticVariation BEFREE Our results suggest that carriers of genotypes with at least one copy of minor G allele of rs2276109 might have lower risk for COPD development, with no marked effect on the lung function and severity of the disease. 28692348 2017
Asthma
CUI: C0004096
Disease: Asthma
0.020 GeneticVariation BEFREE The minor allele of a SNP in MMP12 (rs2276109) is associated with a positive effect on lung function in children with asthma and in adults who smoke. 20018959 2009
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.010 GeneticVariation BEFREE Genotyping of seven single nucleotide polymorphisms (SNPs) of MMP genes (rs1799750, rs243865, rs3025058, rs11225395, rs17576, rs486055, and rs2276109) and eight genome-wide associated loci for IS were done using Taq-Man-based assays and MALDI-TOF mass spectrometry iPLEX platform, respectively. 31056794 2019
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.010 GeneticVariation BEFREE The rs2276109 and rs652438 allele and genotype frequencies were not associated with dementia in PD patients. 28655442 2018
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.010 GeneticVariation BEFREE The rs2276109 and rs652438 allele and genotype frequencies were not associated with dementia in PD patients. 28655442 2018
Dementia
CUI: C0497327
Disease: Dementia
0.010 GeneticVariation BEFREE The rs2276109 and rs652438 allele and genotype frequencies were not associated with dementia in PD patients. 28655442 2018
Rheumatic Heart Disease
CUI: C0035439
Disease: Rheumatic Heart Disease
0.010 GeneticVariation BEFREE In contrast, rs3025058 in MMP3 and rs2276109 in MMP12 might not contribute to the risk of developing RHD in this population. 29458338 2018
Aortic Aneurysm, Abdominal
CUI: C0162871
Disease: 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
Malignant neoplasm of urinary bladder
0.010 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
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.010 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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.010 GeneticVariation BEFREE The results of this study suggest that the -82A →G (rs2276109) polymorphism of the MMP12 gene reflects clinical outcome of patients with CRC. 23898086 2013
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.010 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
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
0.010 GeneticVariation BEFREE For MMP12 -82A>G (rs2276109), no pharmacogenetic effect was found for the primary outcome, although lower HRs were observed for AA homozygotes in the chlorthalidone-amlodipine comparison for HF (P = 0.015). 21887284 2011
Heart failure
CUI: C0018801
Disease: Heart failure
0.010 GeneticVariation BEFREE For MMP12 -82A>G (rs2276109), no pharmacogenetic effect was found for the primary outcome, although lower HRs were observed for AA homozygotes in the chlorthalidone-amlodipine comparison for HF (P = 0.015). 21887284 2011
Pulmonary Fibrosis
CUI: C0034069
Disease: Pulmonary Fibrosis
0.010 GeneticVariation BEFREE The MMP-12 rs2276109 gene polymorphism may contribute to susceptibility to SSc, and in particular to dcSSc and pulmonary fibrosis. 20595276 2010
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.010 GeneticVariation BEFREE The MMP-12 rs2276109 gene polymorphism may contribute to susceptibility to SSc, and in particular to dcSSc and pulmonary fibrosis. 20595276 2010