A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans

By L. Prokunina, C. Castillejo-López, F. Öberg, I. Gunnarsson, L. Berg, V. Magnusson, A. Brookes, D. Tentler, H. Kristjánsdóttir, G. Gröndal and 14 more. Nature Genetics, 2002

805 citations recorded by the source corpus.

Subfields: Genetics, Immunology

View Paper: https://www.semanticscholar.org/paper/f039cc3c3747ac8cb066d444e20a8abb2fed9153

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In Immunology

1. Arlene H. Sharpe
2. G. Freeman
3. M. Butte
4. M. Keir
5. D. Pardoll
6. Lieping Chen
7. E. Wherry
8. Rafi Ahmed

Citations in the corpus

• Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. (2005, background): “Because of their connection to the type I IFN system, the genes encoding FCGR2A and PDCD1 were also included in the analysis.”
• PD-1 and its ligands in tolerance and immunity. (2008, background): “One intronic single nucleotide polymorphism (G7146A) in PDCD1 is located in a binding site for Runx1 (AML-1), a transcription factor with an important regulatory role in hematopoiesis (77).”
• FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization (2006, background): “(i) protein structures, by changing single amino acids (5,6); (ii) transcriptional regulation, by affecting transcription factor binding sites in promoter or intronic enhancer regions (7,8); and (iii) alternative splicing regulation, by disrupting exonic splicing enhancers (9) or silencers.”
• Immune-related adverse events with immune checkpoint blockade: a comprehensive review. (2016, background): “2009 [76] Systemic lupus erythematosus CTLA-4 Asian Hudson, Hum Genet, 2002 [77] PD-1 European and Mexicans Prokunina, Nat Gene, 2002 [9] Bertsias, Arthritis Rheum.”