Genes associated with the development of rheumatoid arthritis (WP5033)

Homo sapiens

Some initial seed info about rheumatoid arthritis and the four genes that may be involved in the disease. Of these, the cited literature is not clear about the role (if any) of PADI4.


Egon Willighagen , Marvin Martens , and Finterly Hu


last edited

Discuss this pathway

Check for ongoing discussions or start your own.

Cited In

Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.


Homo sapiens



Pathway Ontology

disease pathway

Disease Ontology

rheumatoid arthritis


Label Type Compact URI Comment
FCRL3 GeneProduct ensembl:ENSG00000160856
PHF19 GeneProduct ensembl:ENSG00000119403 rs1953126 associated with RA
PTPN22 GeneProduct ensembl:ENSG00000134242
CIITA GeneProduct ensembl:ENSG00000179583
TRAF1 GeneProduct ensembl:ENSG00000056558
SLC22A4 GeneProduct ensembl:ENSG00000197208
HLA-DRB1 GeneProduct ensembl:ENSG00000196126
PADI4 GeneProduct ensembl:ENSG00000159339
IL6ST GeneProduct ensembl:ENSG00000134352
STAT4 GeneProduct ensembl:ENSG00000138378
BLK GeneProduct ensembl:ENSG00000136573
CD40 GeneProduct ensembl:ENSG00000101017
CD244 GeneProduct ensembl:ENSG00000122223
IRF5 GeneProduct ensembl:ENSG00000128604
CTLA4 GeneProduct ensembl:ENSG00000163599
CCR6 GeneProduct ensembl:ENSG00000112486
IL2RA GeneProduct ensembl:ENSG00000134460 rs1953126 associated with RA
ITGAV GeneProduct ensembl:ENSG00000138448 rs1953126 associated with RA


  1. The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Gregersen PK, Silver J, Winchester RJ. Arthritis Rheum. 1987 Nov;30(11):1205–13. PubMed Europe PMC Scholia
  2. Twin concordance rates for rheumatoid arthritis: results from a nationwide study. Silman AJ, MacGregor AJ, Thomson W, Holligan S, Carthy D, Farhan A, et al. Br J Rheumatol. 1993 Oct;32(10):903–7. PubMed Europe PMC Scholia
  3. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Suzuki A, Yamada R, Chang X, Tokuhiro S, Sawada T, Suzuki M, et al. Nat Genet. 2003 Aug;34(4):395–402. PubMed Europe PMC Scholia
  4. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Begovich AB, Carlton VEH, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, et al. Am J Hum Genet. 2004 Aug;75(2):330–7. PubMed Europe PMC Scholia
  5. A family based study shows no association between rheumatoid arthritis and the PADI4 gene in a white French population. Caponi L, Petit-Teixeira E, Sebbag M, Bongiorni F, Moscato S, Pratesi F, et al. Ann Rheum Dis. 2005 Apr;64(4):587–93. PubMed Europe PMC Scholia
  6. Investigation of polymorphisms in the PADI4 gene in determining severity of inflammatory polyarthritis. Barton A, Bowes J, Eyre S, Symmons D, Worthington J, Silman A. Ann Rheum Dis. 2005 Sep;64(9):1311–5. PubMed Europe PMC Scholia
  7. Pathways to gene identification in rheumatoid arthritis: PTPN22 and beyond. Gregersen PK. Immunol Rev. 2005 Apr;204:74–86. PubMed Europe PMC Scholia
  8. MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Swanberg M, Lidman O, Padyukov L, Eriksson P, Akesson E, Jagodic M, et al. Nat Genet. 2005 May;37(5):486–94. PubMed Europe PMC Scholia
  9. Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn’s disease, in Canadian populations. van Oene M, Wintle RF, Liu X, Yazdanpanah M, Gu X, Newman B, et al. Arthritis Rheum. 2005 Jul;52(7):1993–8. PubMed Europe PMC Scholia
  10. PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. Carlton VEH, Hu X, Chokkalingam AP, Schrodi SJ, Brandon R, Alexander HC, et al. Am J Hum Genet. 2005 Oct;77(4):567–81. PubMed Europe PMC Scholia
  11. Genes, environment and immunity in the development of rheumatoid arthritis. Klareskog L, Padyukov L, Rönnelid J, Alfredsson L. Curr Opin Immunol. 2006 Dec;18(6):650–5. PubMed Europe PMC Scholia
  12. The PTPN22 promoter polymorphism -1123G>C association cannot be distinguished from the 1858C>T association in a Norwegian rheumatoid arthritis material. Viken MK, Olsson M, Flåm ST, Førre O, Kvien TK, Thorsby E, et al. Tissue Antigens. 2007 Sep;70(3):190–7. PubMed Europe PMC Scholia
  13. Replication of reported genetic associations of PADI4, FCRL3, SLC22A4 and RUNX1 genes with rheumatoid arthritis: results of an independent Japanese population and evidence from meta-analysis of East Asian studies. Takata Y, Inoue H, Sato A, Tsugawa K, Miyatake K, Hamada D, et al. J Hum Genet. 2008;53(2):163–73. PubMed Europe PMC Scholia
  14. The disease formerly known as rheumatoid arthritis. Firestein GS. Arthritis Res Ther. 2014;16(3):114. PubMed Europe PMC Scholia