Basic information of CCR5 :
| Official Symbol of Gene | CCR5 |
| Species | Homo sapiens |
| Entrez Gene ID | 1234 |
| Official Full Name | C-C motif chemokine receptor 5 |
| Also known as | CKR5; CCR-5; CD195; CKR-5; CCCKR5; CMKBR5; IDDM22; CC-CKR-5 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000160791 MIM:601373; AllianceGenome:HGNC:1606 |
| Map Location | 3p21.31 |
| Variation Type | allele |
| refSNP ID | Δ32 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS |
| Population | Sicilian |
| Sample Size | 180 MS patients / 213 unrelated healthy donors |
Literature information of multiple sclerosis :
| Pubmed ID | 22096627 |
| Year | 2011 |
| Title | CCR5Δ32 Polymorphism Associated with a Slower Rate Disease Progression in a Cohort of RR-MS Sicilian Patients |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | The frequencies of CCR5Δ32 alleles in patients with MS did not differ significantly from those of controls and were not influenced by gender. We did not observed any significant association between CCR5Δ32 allele and age onset. |
| Mechanism/Pathway | Genetic studies indicate that CC-chemokines and chemokine receptors are involved in the susceptibility to MS, in fact;they play a significant role in the migration of monocytes and T cells.A nonfunctional allele, resulting from a 32-bp deletion in exon 4, CCR5Δ32, leads to a truncated form of the functional receptor.Moreover, in the CNS, CCR5 is expressed on neurons, astrocytes, and microglia, as well as on endothelium and vascular smooth muscle cells and on T-helper cells.During MS pathogenesis, the absence of functional CCR5 on the cell surface could lead to reduced trafficking of leucocytes into the lesion sites, thus downregulating inflammation in brain tissue. |
