rs3918242
This is a upstream gene variant variant in the MMP9 gene.
▶Research that mentions this SNP (5)
▶MMP‐9 gene rs3918242 polymorphism increases risk of stroke: A meta‐analysisMeta-analysisN=7,332Baohua Wang et al.(2018)· Journal of Cellular Biochemistry
A meta-analysis of 16 case-control studies (3647 stroke cases and 3685 controls) found that the MMP-9 gene rs3918242 (1562C/T) polymorphism significantly increases stroke risk overall (T vs C: OR=1.33, p=0.001; TT vs CC: OR=1.99, p=0.007). The association was significant among Asians (OR=1.40 for dominant model) but not Caucasians. rs3918242 was specifically associated with increased ischemic stroke risk (OR=1.33) but not hemorrhagic stroke.
▶Functional polymorphism of matrix metalloproteinase-9 (MMP-9) gene and response to lithium prophylaxis in bipolar patientsAssociationN=109Janusz K. Rybakowski et al.(2011)· Human Psychopharmacology: Clinical and Experimental
Study of 109 bipolar patients treated with lithium for 5-27 years examined whether the functional MMP-9 gene polymorphism -1562C/T (rs3918242) was associated with lithium prophylactic response. No significant association was found between the polymorphism and lithium treatment response (excellent, partial, or non-response), despite prior studies showing MMP-9 association with bipolar disorder itself.
▶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 (−1,607) 1G/2G polymorphism of matrix metalloproteinase-1 gene with knee osteoarthritis in the Turkish population (knee osteoarthritis and MMPs gene polymorphisms)AssociationN=241Barlas IO et al.(2009)· Rheumatology International
Case-control study of 157 knee osteoarthritis patients versus 84 Turkish controls found significant association with MMP-1 rs1799750 (-1,607 1G/2G) polymorphism. The 1G/1G genotype showed OR=8.05 (95% CI: 2.18-29.71, P=0.002) and 1G/2G genotype showed OR=3.20 (95% CI: 1.39-7.37, P=0.006) for osteoarthritis risk. The 1G allele frequency was significantly higher in patients (38.1%) versus controls (21%, P=0.0001). No significant associations were found for MMP-2 or MMP-9 polymorphisms with knee osteoarthritis.
▶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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