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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 SNP
refSNP ID rs2227981

Sample information of multiple sclerosis:

Detected Sample Blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype SPMS,RRMS
Population south Polish
Sample Size 203 unrelated MS patients,276 healthy volunteers

Literature information of multiple sclerosis :

Pubmed ID 28284331
Year 2017
Title PD-1 gene polymorphic variation is linked with first symptom of disease and severity of relapsing-remitting form of MS

Results of multiple sclerosis :

Risk Type Disease risk
Main Result positive
Result Our population-based case-control study, investigating selected three PD-1 SNPs: PD-1.3, PD-1.5 and PD-1.9, revealed that polymorphic variation may be rather disease-modifying than MS risk factor.
Mechanism/Pathway N/A