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 | polymorphisms |
| refSNP ID | 1562 C/T |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS |
| Population | Iranian |
| Sample Size | 100 RRMS patients / 105 control subjects |
Literature information of multiple sclerosis :
| Pubmed ID | 31700826 |
| Year | 2019 |
| Title | Association Study between Functional Polymorphisms of MMP9 Gene Promoter and Multiple Sclerosis Susceptibility in an Iranian Population |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result |
A significant upper difference was observed in allele frequencies between MS patients compared to healthy volunteers in |
| Mechanism/Pathway | The episodic phase of relapsing-remitting (RR) MS is characterized by the breakdown of the blood-brain barrier (BBB), autoreactive inflammatory cells migrating into the CNS and demyelination.Matrix metalloproteinases (MMPs) are proteolytic enzymes implicated in many aspects of human development and tissue remodeling.These enzymes, particularly Matrix metalloproteinase-9 (MMP-9), are the major participants in breakdown of the blood-brain barrier (BBB) in MS. MMP-9, also known as gelatinase B, degrades various components of the extracellular matrix (ECM).MMP9 plays a role in the inflammatory cells influx in the CNS and have been revealed to split human myelin basic protein (MBP).The single nucleotide polymorphism C–1562 T prevents the binding of a nuclear repressor protein to this region of the MMP-9 gene promoter, then attending to raised MMP-9 expression, as reported in vitro studies. |
