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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 rs36084323

Sample information of multiple sclerosis:

Detected Sample whole blood
Sample Detail N/A
Detected Method PCR-RFLP
Disease MS
Disease subtype N/A
Population N/A
Sample Size 229 MS patients / 246 healthy controls

Literature information of multiple sclerosis :

Pubmed ID 36308011
Year 2023
Title The association between PD-1 gene polymorphisms and susceptibility to multiple sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Negative
Result The frequency difference of PD-1.1 genotypes and alleles (-536 G/A) between patients and healthy controls was not significant.
Mechanism/Pathway Programmed cell death 1 (PD-1) is an immune checkpoint and has been reported to be associated with several autoimmune diseases.