Basic information of PDCD1 :

Official Symbol of Gene	PDCD1
Species	Homo sapiens
Entrez Gene ID	5133
Official Full Name	programmed cell death 1
Also known as	PD1; PD-1; CD279; SLEB2; hPD-1; hPD-l; hSLE1
Gene Type	protein coding
dbXrefs	Ensembl:ENSG00000188389 MIM:600244; AllianceGenome:HGNC:8760
Map Location	2q37.3
Variation Type	intronic polymorphism
refSNP ID	7146G/A

Sample information of multiple sclerosis:

Detected Sample	peripheral blood
Sample Detail	PBMC
Detected Method	PCR
Disease	MS
Disease subtype	RR、PP
Population	Germany
Sample Size	939 German MS patients,566 patients [60%] with relapsing-remitting MS, 279 (30%) with secondary, and 94 (10%) with primary progressive MS) and 272 healthy white controls

Literature information of multiple sclerosis :

Pubmed ID	15912506
Year	2005
Title	A PD-1 Polymorphism Is Associated with Disease Progression in Multiple Sclerosis

Results of multiple sclerosis :

Risk Type	Disease risk
Main Result	positive
Result	Importantly, PD-1–mediated inhibition of T-cell cytokine secretion (interferon-) is impaired in patients carrying the PD-1 polymorphism. In conclusion, our data suggest that PD-1 polymorphism is a genetic modifier of the progression of MS, possibly through inducing a partial defect in PD-1–mediated inhibition of T-cell activation.
Mechanism/Pathway	a genetic modifier of the progression of MS