{{Rsnum
|rsid=2276109
|Gene=MMP12
|Chromosome=11
|position=102875061
|Orientation=minus
|GMAF=0.073
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MMP12
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 79.6 | 19.5 | 0.9
| HCB | 91.2 | 7.3 | 1.5
| JPT | 92.9 | 7.1 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 96.5 | 3.5 | 0.0
| CHB | 91.2 | 7.3 | 1.5
| CHD | 96.3 | 3.7 | 0.0
| GIH | 87.1 | 11.9 | 1.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 84.5 | 13.8 | 1.7
| MKK | 94.2 | 5.8 | 0.0
| TSI | 75.5 | 20.6 | 3.9
| HapMapRevision=28
}}{{PMID Auto
|PMID=20018959
|Title=MMP12, Lung Function, and COPD in High-Risk Populations
|OA=1
}}

{{PMID Auto
|PMID=20078883
|Title=Association of MMP - 12 polymorphisms with severe and very severe COPD: A case control study of MMPs - 1, 9 and 12 in a European population
|OA=1
}}

{{PMID Auto
|PMID=20595276
|Title=Association of a Functional Polymorphism in the Matrix Metalloproteinase-12 Promoter Region with Systemic Sclerosis in an Italian Population
}}

{{omim
|desc=MATRIX METALLOPROTEINASE 12; MMP12
|id=601046
|rsnum=2276109
}}

{{PharmGKB
|RSID=rs2276109
|Name_s=MMP12: -82G>A
|Gene_s=MMP12
|Feature=
|Evidence=PubMed ID:20018959
|Annotation=The minor allele (G) of rs2276109 [-82AG]) was positively associated with prebronchodilator forced expiratory volume in 1 second (FEV1) in a combined analysis of children with asthma and adult former and current smokers (P=2x10-6). This allele was also associated with a reduced risk of the onset of Chronic Obstructive Pulmonary Disease (COPD) in the Normative Aging Study cohort(initially healthy men) (hazard ratio, 0.65; 95% confidence interval [CI], 0.46 to 0.92; P=0.02) and with a reduced risk of COPD in a cohort of smokers (odds ratio, 0.63; 95% CI, 0.45 to 0.88; P=0.005) and among participants in a family-based study of early-onset COPD (P=0.006).
|Drugs=
|Drug Classes=
|Diseases=Asthma; Pulmonary Disease, Chronic Obstructive
|Curation Level=Curated
|PharmGKB Accession ID=PA165111498
}}

{{omim
|id=606963
|rsnum=2276109
}}

{{PMID Auto
|PMID=21410539
|Title=Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture
}}

{{PMID Auto
|PMID=20827277
|Title=Matrix metalloproteinase haplotypes associated with coronary artery aneurysm formation in patients with Kawasaki disease
|OA=1
}}

{{PMID Auto
|PMID=21444408
|Title=Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture
}}

{{PMID Auto
|PMID=16311244
|Title=Genotypes and haplotypes of matrix metalloproteinase 1, 3 and 12 genes and the risk of lung cancer.
}}

{{PMID Auto
|PMID=19321798
|Title=Matrix metalloproteinase 1, 3 and 12 polymorphisms and esophageal adenocarcinoma risk and prognosis.
|OA=1
}}

{{PMID Auto
|PMID=19664242
|Title=Functional polymorphisms in matrix metalloproteinases -1, -3, -9 and -12 in relation to cervical artery dissection.
|OA=1
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2276109
|overall_frequency_n=4
|overall_frequency_d=128
|overall_frequency=0.03125
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=2
|webscore=N
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23813847
|Title=The association of genetic variants of matrix metalloproteinases with abdominal aortic aneurysm: a systematic review and meta-analysis
}}

{{PMID Auto
|PMID=23819551
|Title=Genetic polymorphisms in matrix metalloproteinases (MMPs) and tissue inhibitors of MPs (TIMPs), and bladder cancer susceptibility
}}

{{PMID Auto
|PMID=23898086
|Title=Gene polymorphism of matrix metalloproteinase-12 and -13 and association with colorectal cancer in Swedish patients
}}

{{on chip | Illumina Human 1M}}