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Basic information of PTAFR :

Official Symbol of Gene PTAFR
Species Homo sapiens
Entrez Gene ID 5724
Official Full Name platelet activating factor receptor
Also known as PAFR
Gene Type protein coding
dbXrefs Ensembl:ENSG00000169403 MIM:173393; AllianceGenome:HGNC:9582
Map Location 1p35.3
Variation Type polymorphism
refSNP ID A224D

Sample information of multiple sclerosis:

Detected Sample leukocytes
Sample Detail N/A
Detected Method PCR-RFLP
Disease MS
Disease subtype N/A
Population Japanese
Sample Size 162 MS patients / 245 healthy controls

Literature information of multiple sclerosis :

Pubmed ID 15748960
Year 2004
Title Platelet-activating factor receptor gene polymorphism in Japanese patients with multiple sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result The frequency of the AD/DD genotypes was significantly higher in MS patients than in healthy controls.Moreover, the frequency of D allele in MS patients was also significantly higher than those in healthy controls.
Mechanism/Pathway PAF is a very potent chemotactic stimulant for inflammatory cells such as eosinophils and polymorphonuclear neutrophils. PAF not only promotes leukocyte adhesion and transmigration by the induction of intracellular adhesion molecule-1 (ICAM-1) on endothelial cells, but also upregulates major histocompatibility complex (MHC) class I and II expressions in some brain cells thatare critical in antigen presentation.These proinflammatory and vasoactive actions of PAF are mediated through a specific G-protein-coupled receptor, PAFR .