rs3918249

This variant is located in the MMP9 gene.

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GWAS Catalog Trait Associations (1)

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

matrix metalloproteinase-9 measurement

Jiang MZ et al. “Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.” Human Molecular Genetics 33(16):1429-1441 (2024)
Allele C
OR 0.07
p 2.0e-11
N 5,191
Major Consortium StudyLarge GWAS
multi-ancestry

About MMP9

Proteins of the matrix metalloproteinase (MMP) 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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008]

View all MMP9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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