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Basic information of TLR4 :

Official Symbol of Gene TLR4
Species Homo sapiens
Entrez Gene ID 7099
Official Full Name toll like receptor 4
Also known as TOLL; CD284; TLR-4; ARMD10
Gene Type protein coding
dbXrefs Ensembl:ENSG00000136869 MIM:603030; AllianceGenome:HGNC:11850
Map Location 9q33.1
Variation Type mutation
refSNP ID Asp299Gly

Sample information of multiple sclerosis:

Detected Sample blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype N/A
Population N/A
Sample Size 890 MS patients with multiple sclerosis and 350 healthy controls

Literature information of multiple sclerosis :

Pubmed ID 15932772
Year 2005
Title Impact of the Asp299Gly polymorphism in the toll-like receptor 4 (tlr-4) gene on disease course of multiple sclerosis

Results of multiple sclerosis :

Risk Type Phenotype risk
Main Result Negative
Result In vitro LPS stimulation studies showed a significantly lower proliferation of PBMCs from donors heterozygous for the Asp299Gly mutation in comparison to PBMCs from individuals with the wild-type genotype ( p = 0.01).
Mechanism/Pathway It is possible that the reduced activity towards activation via the TLR-4 pathway takes place on both activating and suppressing cell types which then leads to a new equilibrium with the net result of a normal overall function.