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Basic information of MMP9 :

Official Symbol of Gene MMP9
Species Homo sapiens
Entrez Gene ID 4318
Official Full Name matrix metallopeptidase 9
Also known as GELB; CLG4B; MMP-9; MANDP2
Gene Type protein coding
dbXrefs Ensembl:ENSG00000100985 MIM:120361; AllianceGenome:HGNC:7176
Map Location 20q13.12
Variation Type SNP
refSNP ID rs3918242

Sample information of multiple sclerosis:

Detected Sample mononuclear blood cells
Sample Detail N/A
Detected Method PCR-RFLP
Disease MS
Disease subtype N/A
Population N/A
Sample Size 104 nuclear families, each of them comprising MS patients and their healthy parents

Literature information of multiple sclerosis :

Pubmed ID 22649676
Year 2011
Title Family Analysis of Linkage and Association of HLA-DRB1, CTLA4, TGFB1, IL4, CCR5, RANTES, MMP9 and TIMP1 Gene Polymorphisms with Multiple Sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result We detected a significant linkage/association between MS and MMP9 *(–1562)С alleles.
Mechanism/Pathway The matrix metalloproteinases (MMPs) play the key role in this barrier penetration.The MMPs are involved in various stages of MS pathogenesis: they participate in the local damaging of the hematoencephalic barrier and perivascular lymphocytes infiltration, in the damaging of myelin sheath and in the formation of the demyelination lesions and axonal death. One of the major metalloproteinases, MMP9, is expressed by perivascular mononuclear cells of white matter and, together with other MMPs, is associated with monocytes and astrocytes in the demyelination lesions.