Basic information of MERTK :
| Official Symbol of Gene | MERTK |
| Species | Homo sapiens |
| Entrez Gene ID | 10461 |
| Official Full Name | MER proto-oncogene, tyrosine kinase |
| Also known as | MER; RP38; c-Eyk; c-mer; Tyro12 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000153208 MIM:604705; AllianceGenome:HGNC:7027 |
| Map Location | 2q13 |
| Variation Type | SNP |
| refSNP ID | rs867311 |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | un-genotyped SNPs in the GWAS cohort |
| Disease | MS |
| Disease subtype | N/A |
| Population | Australia and New Zealand |
| Sample Size | 1140 MS cases and 1140 healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 21347448 |
| Year | 2011 |
| Title | Polymorphisms in the Receptor Tyrosine Kinase MERTK Gene Are Associated with Multiple Sclerosis Susceptibility |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | All 12 replicated SNPs were in strong linkage disequilibrium with each other. In combination, these data suggest the MERTK gene is a novel risk gene for MS susceptibility |
| Result | In conclusion, this candidate gene study has identified an association of MS with 12 SNPs in the MERTK gene that replicated in two independent cohorts of MS cases and controls, an association that is particularly compelling given the previous studies implicating TAM receptor signalling in demyelination and autoimmunity. Further fine mapping studies will be required to determine the causal variant or variants |
| Mechanism/Pathway | Susceptibility to MS is thought to involve a complex interplay of genetic and environmental factors, with the HLA-DRB1*1501-DQBI*602 (HLA-DR15) haplotype in the major histocompatibility complex (MHC) being the predominant genetic risk factor |
