Basic information of IGHV4-39 :
| Official Symbol of Gene | IGHV4-39 |
| Species | Homo sapiens |
| Entrez Gene ID | 28394 |
| Official Full Name | immunoglobulin heavy variable 4-39 |
| Also known as | VH; IGHV439 |
| Gene Type | other |
| dbXrefs | Ensembl:ENSG00000211959 IMGT/GENE-DB:IGHV4-39; AllianceGenome:HGNC:5651 |
| Map Location | 14q32.33 |
| Variation Type | Deletion |
| refSNP ID | IGHV4-39 |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | BMS, MMS |
| Population | Canadian |
| Sample Size | 193 MS patients / 187 control samples |
Literature information of multiple sclerosis :
| Pubmed ID | 20471699 |
| Year | 2010 |
| Title | IGHV4-39 deletion polymorphism does not associate with risk or outcome of multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | We observed no significant differences in the observed deletion frequencies between MS cases and controls, or between benign and malignant cases. IGHV4-39 was not present in sequences of PCR products generated with Msdel1 from genomic DNA of individuals suspected to be carrying a homozygous deletion, based on previous screening at markers Msdel2-4. |
| Mechanism/Pathway | Several studies have shown that immunoglobulin heavy chain variable (IGHV) gene segment usage in B cell populations of MS brain lesions and CSF is biased toward IGHV family 4 genes, in particular, gene IGHV4-39. Adding to the complexity of the locus, insertion–deletion polymorphisms contribute to haplotype variation. |
