rs2274755
This is a splice region variant variant in the MMP9 gene.
▶ClinVar annotation
Metaphyseal anadysplasia 2 (MANDP2); not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶Genetic polymorphism patterns suggest a genetic driven inflammatory response as pathogenesis in appendicitisAssociationN=343Jan Dimberg et al.(2020)· International Journal of Colorectal Disease
This case-control study analyzes 28 SNPs in 26 inflammatory response genes in 343 patients (100 with appendicitis, 243 controls) using TaqMan genotyping. Significant associations were found for IL-13 rs1800925 (OR=6.02, 95% CI 1.52-23.78), IL-17 rs2275913 (OR=2.38, 95% CI 1.24-4.57), and CCL22 rs223888 (OR=0.12, 95% CI 0.02-0.90), suggesting a genetic-driven inflammatory response as a pathogenic mechanism in appendicitis.
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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