Genes associated with the development of rheumatoid arthritis (Homo sapiens)

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5, 7, 10, 14CytokinesCIITAPTPN22citrullinationPHF19SLC22A4HLA-DRB1TRAF1chronicinflammationFCRL3414PADI49-1123G>CR620W45, 121, 23, 6, 138C17336144T11IL6ST4STAT414T cells14OtherB cellsBLKCD4014CD2441414IRF5CTLA41414CCR6IL2RA14ITGAV


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.

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  1. Carlton VE, Hu X, Chokkalingam AP, Schrodi SJ, Brandon R, Alexander HC, Chang M, Catanese JJ, Leong DU, Ardlie KG, Kastner DL, Seldin MF, Criswell LA, Gregersen PK, Beasley E, Thomson G, Amos CI, Begovich AB; ''PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.''; Am J Hum Genet, 2005 PubMed Europe PMC Scholia
  2. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK; ''A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.''; Am J Hum Genet, 2004 PubMed Europe PMC Scholia
  3. Barton A, Bowes J, Eyre S, Symmons D, Worthington J, Silman A; ''Investigation of polymorphisms in the PADI4 gene in determining severity of inflammatory polyarthritis.''; Ann Rheum Dis, 2005 PubMed Europe PMC Scholia
  4. Takata Y, Inoue H, Sato A, Tsugawa K, Miyatake K, Hamada D, Shinomiya F, Nakano S, Yasui N, Tanahashi T, Itakura M; ''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.''; J Hum Genet, 2008 PubMed Europe PMC Scholia
  5. Klareskog L, Padyukov L, Rönnelid J, Alfredsson L; ''Genes, environment and immunity in the development of rheumatoid arthritis.''; Curr Opin Immunol, 2006 PubMed Europe PMC Scholia
  6. Suzuki A, Yamada R, Chang X, Tokuhiro S, Sawada T, Suzuki M, Nagasaki M, Nakayama-Hamada M, Kawaida R, Ono M, Ohtsuki M, Furukawa H, Yoshino S, Yukioka M, Tohma S, Matsubara T, Wakitani S, Teshima R, Nishioka Y, Sekine A, Iida A, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K; ''Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis.''; Nat Genet, 2003 PubMed Europe PMC Scholia
  7. Gregersen PK; ''Pathways to gene identification in rheumatoid arthritis: PTPN22 and beyond.''; Immunol Rev, 2005 PubMed Europe PMC Scholia
  8. Viken MK, Olsson M, Flåm ST, Førre O, Kvien TK, Thorsby E, Lie BA; ''The PTPN22 promoter polymorphism -1123G>C association cannot be distinguished from the 1858C>T association in a Norwegian rheumatoidarthritis material.''; Tissue Antigens, 2007 PubMed Europe PMC Scholia
  9. Swanberg M, Lidman O, Padyukov L, Eriksson P, Akesson E, Jagodic M, Lobell A, Khademi M, Börjesson O, Lindgren CM, Lundman P, Brookes AJ, Kere J, Luthman H, Alfredsson L, Hillert J, Klareskog L, Hamsten A, Piehl F, Olsson T; ''MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction.''; Nat Genet, 2005 PubMed Europe PMC Scholia
  10. Silman AJ, MacGregor AJ, Thomson W, Holligan S, Carthy D, Farhan A, Ollier WE; ''Twin concordance rates for rheumatoid arthritis: results from a nationwide study.''; Br J Rheumatol, 1993 PubMed Europe PMC Scholia
  11. van Oene M, Wintle RF, Liu X, Yazdanpanah M, Gu X, Newman B, Kwan A, Johnson B, Owen J, Greer W, Mosher D, Maksymowych W, Keystone E, Rubin LA, Amos CI, Siminovitch KA; ''Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations.''; Arthritis Rheum, 2005 PubMed Europe PMC Scholia
  12. Gregersen PK, Silver J, Winchester RJ; ''The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis.''; Arthritis Rheum, 1987 PubMed Europe PMC Scholia
  13. Caponi L, Petit-Teixeira E, Sebbag M, Bongiorni F, Moscato S, Pratesi F, Pierlot C, Osorio J, Chapuy-Regaud S, Guerrin M, Cornelis F, Serre G, Migliorini P; ''A family based study shows no association between rheumatoid arthritis and the PADI4 gene in a white French population.''; Ann Rheum Dis, 2005 PubMed Europe PMC Scholia
  14. Firestein GS; ''The disease formerly known as rheumatoid arthritis.''; Arthritis Res Ther, 2014 PubMed Europe PMC Scholia


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118996view09:28, 8 June 2021FinterlyRemoved empty Comment
115464view17:31, 21 February 2021Marvin M2Ontology Term : 'rheumatoid arthritis' added !
114432view09:17, 11 January 2021EgonwAdded missing gene identifiers
114431view20:50, 10 January 2021EgonwAdded three more genes with SNPs which have been associated with increased RA risk
114430view20:26, 10 January 2021EgonwAdded the genes listed in "The disease formerly known as rheumatoid arthritis"
114277view17:35, 3 January 2021EgonwFound the dbSNP id for the third variant too
114273view15:36, 3 January 2021EgonwUpdated title and an extra reference
114272view15:23, 3 January 2021EgonwAdded another variant dbSNP id
114271view14:48, 3 January 2021EgonwMore info
114270view13:24, 3 January 2021EgonwAdded the dbSNP id of the SNP
114269view13:20, 3 January 2021EgonwAdded a SNP linked to RA
114268view13:11, 3 January 2021EgonwModified description
114267view13:09, 3 January 2021EgonwOntology Term : 'disease pathway' added !
114266view13:08, 3 January 2021EgonwNew pathway

External references


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NameTypeDatabase referenceComment
BLKGeneProductENSG00000136573 (Ensembl)
CCR6GeneProductENSG00000112486 (Ensembl)
CD244GeneProductENSG00000122223 (Ensembl)
CD40GeneProductENSG00000101017 (Ensembl)
CIITAGeneProductENSG00000179583 (Ensembl)
CTLA4GeneProductENSG00000163599 (Ensembl)
FCRL3GeneProductENSG00000160856 (Ensembl)
HLA-DRB1GeneProductENSG00000196126 (Ensembl)
IL2RAGeneProductENSG00000134460 (Ensembl) rs1953126 associated with RA
IL6STGeneProductENSG00000134352 (Ensembl)
IRF5GeneProductENSG00000128604 (Ensembl)
ITGAVGeneProductENSG00000138448 (Ensembl) rs1953126 associated with RA
PADI4GeneProductENSG00000159339 (Ensembl)
PHF19GeneProductENSG00000119403 (Ensembl) rs1953126 associated with RA
PTPN22GeneProductENSG00000134242 (Ensembl)
SLC22A4GeneProductENSG00000197208 (Ensembl)
STAT4GeneProductENSG00000138378 (Ensembl)
TRAF1GeneProductENSG00000056558 (Ensembl)
chronic inflammationPathway

Annotated Interactions

No annotated interactions

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