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 | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | German |
| Sample Size | 1652 cases and 1350 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 25670000 |
| Year | 2015 |
| Title | MS susceptibility is not affected by single nucleotide polymorphisms in the MMP9 gene |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | We determined the first five axes of variation resulting from a multidimensional scaling analysis (MDS) of the identity by state (IBS) matrix. These were used as covariates in the analysis, thereby taking population stratification into account. SNPs with a minor allele frequency (MAF) b0.01, a call rate b98%, or a significant deviation from Hardy–Weinberg-Equilibrium |
| Result | In conclusion, our results do not suggest that MS susceptibility is affected by known genetic variants within MMP9, although MMP9 itself may play an important role in MS pathophysiology |
| Mechanism/Pathway |
Our aims were (a) to improve the statistical power by genotyping a large sample size, (b) to nominally increase the SNP coverage of the MMP9 region and the flanking +/ |
