rs2250889

This is a variant in the MMP9 gene that changes a arginine to an leucine.

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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

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele C

OR —

β 0.620

p 2.0e-26

N 3,301

Large GWAS

European

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter3 publications

View on ClinVar →

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Research that mentions this SNP (1)

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Association of a nonsynonymous single‐nucleotide polymorphism of matrix metalloproteinase 9 with giant cell arteritis

AssociationN=58Rodríguez-Pla A. et al.(2008)· Arthritis & Rheumatism

Case-control association study examining four MMP-9 polymorphisms in giant cell arteritis (GCA). The G allele of rs2250889 (R574P amino acid change) was significantly overrepresented in 30 histologically confirmed GCA patients compared to 28 GCA-negative patients (P = 0.005) and 23 population controls (P = 0.009), suggesting involvement of MMP-9 variants in GCA pathogenesis.

Traits studied:Giant cell arteritis

PubMed DOI Metascience Observatory

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]