rs17576
This is a variant in the MMP9 gene that changes a glutamine to an arginine.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
matrix metalloproteinase-9 measurement
▶ClinVar annotation
▶Research that mentions this SNP (4)
▶Identification of pelvic organ prolapse risk susceptibility gene SNP locus in Xinjiang womenAssociationN=196Aibibuhan· Abulaizi et al.(2020)· International Urogynecology Journal
Candidate gene association study in Xinjiang women identifying pelvic organ prolapse (POP) susceptibility loci. Among 88 POP cases and 108 controls, ESR1 rs17847075 (OR=2.738, P=0.041) and rs2234693 (OR=2.99, P=0.024), ZFAT rs1036819 (OR=10.286, P=0.036), and protective FBLN5 rs12589592 (OR=0.111, P=0.029) showed significant associations with POP risk.
▶Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral cleftsAssociationN=2,288Ariadne Letra et al.(2012)· Birth Defects Research Part A: Clinical and Molecular Teratology
Association study of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts in Brazilian case-control (494 cases, 413 controls) and US family-based (881 families) cohorts. MMP3 rs522616 showed strong association with all clefts (P=0.00002), cleft lip/palate (P=0.0009), and cleft palate (P=0.006). TIMP2 rs8179096 associated with all clefts (P=0.004), cleft lip/palate (P=0.01), and cleft palate (P=0.02). Significant gene-gene interaction between MMP3-TIMP2 detected (P=0.000001).
▶Fine mapping and association studies in a candidate region for autism on chromosome 2q31–q32AssociationN=585Judith Conroy et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
A case-control study in a Russian population (285 type 1 diabetes patients, 300 controls) examining 58 SNPs across 47 genes involved in fibrogenesis, endothelial dysfunction, and inflammation. Seven SNPs showed significant association with T1D susceptibility: rs3765124 (ADAMDEC1 AA genotype, OR=1.79, p=0.004), rs1007856 (ITGB5 TT genotype, OR=1.67, p=0.015), rs20579 (LIG1 CC genotype, OR=1.86, p=0.004), rs12980602 (IFNL2 allele C, OR=1.49, p=0.029), rs4986819 (PARP4 allele C, OR=1.52, p=0.044), rs1143674 (ITGA4 GG genotype, OR=2.06, p=0.002), and rs679620 (MMP3 AA genotype, OR=2.03, p=0.008).
▶Association of a nonsynonymous single‐nucleotide polymorphism of matrix metalloproteinase 9 with giant cell arteritisAssociationN=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.
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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