rs17368582

This is a coding sequence variant variant in the MMP12 gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele T
OR 0.70
p 5.0e-77
N 3,200
Large GWAS
European

macrophage metalloelastase level

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele C
OR 0.74
p 1.0e-37
N 997
Small GWAS
multi-ancestry

emphysema pattern measurement

Castaldi PJ et al. “Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.” American Journal of Respiratory and Critical Care Medicine 190(4):399-409 (2014)
Allele G
OR 0.02
p 3.0e-9
N 9,614
Large GWAS
multi-ancestry

atopic eczema

Pasanen A et al. “Identifying Atopic Dermatitis Risk Loci in 1,094,060 Individuals with Subanalysis of Disease Severity and Onset.” The Journal of Investigative Dermatology 144(11):2417-2425 (2024)
Allele T
OR 0.07
p 1.0e-8
N 1,094,060
Large GWAS
multi-ancestry

About MMP12

This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease degrades soluble and insoluble elastin. This gene may play a role in aneurysm formation and mutations in this gene are associated with lung function and chronic obstructive pulmonary disease (COPD). This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]

View all MMP12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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