Believed to be the 'PD-1' SNP, (also known as PD-1.1, -538G/A, and/or, -600G/A). Relevant to the effectiveness of Pembrolizumab
Minor allele much more frequent in Asian populations.
[PMID 24804191] A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China
[PMID 24860805] Upregulated PD-1 Expression Is Associated with the Development of Systemic Lupus Erythematosus, but Not the PD-1.1 Allele of the PDCD1 Gene
[PMID 25747035] Genetic variations of IL-28B and PD-1 are in association with the susceptibility and outcomes of HCV infection in Southeast China
[PMID 27751353] Association of programmed death-1 polymorphisms with the risk and prognosis of esophageal squamous cell carcinoma.