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Basic information of CXCL12 :

Official Symbol of Gene CXCL12
Species Homo sapiens
Entrez Gene ID 6387
Official Full Name C-X-C motif chemokine ligand 12
Also known as IRH; PBSF; SDF1; TLSF; TPAR1; SCYB12
Gene Type protein coding
dbXrefs Ensembl:ENSG00000107562 MIM:600835; AllianceGenome:HGNC:10672
Map Location 10q11.21
Variation Type polymorphism
refSNP ID SDF-13'a

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail N/A
Detected Method PCR-RLFP
Disease MS
Disease subtype RRMS
Population Iranian
Sample Size 100 MS patients / 100 healthy controls

Literature information of multiple sclerosis :

Pubmed ID 22125123
Year 2011
Title The SDF-1 3'a genetic variation of the chemokine SDF-1α (CXCL12) in parallel with its increased circulating levels is associated with susceptibility to MS: a study on Iranian multiple sclerosis patients

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result Our results showed a significant difference between the A/A, A/G, and G/G genotype and A and G alleles of polymorphisms at position +801 of SDF-1α (CXCL12).
Mechanism/Pathway Immune regulatory factors might influence the pathogenesis of MS. Chemokines are low molecular weight proteins. A chemokine network exists in the CNS which is involved in physiological responses, under certain circumstances, pathological and repair processes subsequent to neurological injury.Based on the significant role that CXCL12 axis plays in hematopoiesis including hematopoietic cell differentiation and survival and homing of hematopoietic progenitors to the bone marrow and regulation of neuronal progenitor cell migration in the CNS, thus, genetic factors that lead to elevated expression of this chemokine enable the immune system to induce a vigorous immune response against CNS antigens in MS patients.