KEGG   DISEASE: 関節リウマチ
エントリ  
H00630                                                             
名称    
関節リウマチ
  下位グループ
若年性関節リウマチ (JIA) [DS:H01672]
概要    
Rheumatoid arthritis (RA) is a common autoimmune disease that primarily manifests as chronic inflammatory arthropathy. Persistent synovitis leads to cartilage destruction, bone erosions and periarticular decalcification, subsequently resulting in impaired joint function. It is more common between the ages of 35 and 50 years, affecting three times more women than men. Susceptibility to RA is genetically determined with multiple genes contributing. Inheritance of HLA DRB1 alleles encoding a distinctive five-amino-acid sequence known as the "shared epitope" (SE) is the best characterized genetic risk factor. The mechanism by which the SE alleles contribute to the development of RA is not very clear. It has been postulated that the presence of these conserved sequences in the antigen-binding groove alters the way antigenic peptides are bound to and presented to T-cell lymphocytes. This, in turn, may trigger abnormal immune responses and lead to RA.
カテゴリ  
免疫系疾患
階層分類  
ヒト疾患 [BR:jp08402]
 免疫系疾患
  アレルギーと自己免疫疾患
   H00630  関節リウマチ
ICD-11 による疾患分類 [BR:jp08403]
 15 筋骨格系・結合組織の疾患
  関節症
   炎症性関節症
    FA20  関節リウマチ
     H00630  関節リウマチ
特定疾患 (難病) [jp08407.html]
 H00630
パスウェイ 
hsa05323  関節リウマチ
関連パスウェイ
hsa04612 Antigen processing and presentation   
hsa04620 Toll-like receptor signaling pathway   
hsa04625 C-type lectin receptor signaling pathway   
hsa04659 Th17 cell differentiation   
病因遺伝子 
HLA-DRB1 [HSA:3123] [KO:K06752]
PTPN22 [HSA:26191] [KO:K18024]
CIITA [HSA:4261] [KO:K08060]
CD244 [HSA:51744] [KO:K06582]
SLC22A4 [HSA:6583] [KO:K08202]
IRF5 [HSA:3663] [KO:K09446]
NFKBIL1 [HSA:4795] [KO:K09256]
IL10 [HSA:3586] [KO:K05443]
(JIA) IL6 [HSA:3569] [KO:K05405]
(JIA) MIF [HSA:4282] [KO:K07253]
治療薬   
アスピリン [DR:D00109]
インドメタシン [DR:D00141]
イブプロフェン [DR:D00126]
ナプロキセン [DR:D00118]
ピロキシカム [DR:D00127]
ケトプロフェン [DR:D00132]
オキサプロジン [DR:D00463]
プラノプロフェン [DR:D01578]
アクタリット [DR:D01395]
ブコローム [DR:D01661]
デキサメタゾン [DR:D00292]
デキサメタゾンリン酸エステルナトリウム [DR:D00975]
ベタメタゾンリン酸エステルナトリウム [DR:D00972]
トリアムシノロンアセトニド [DR:D00983]
精製ヒアルロン酸ナトリウム [DR:D03354]
タクロリムス水和物 [DR:D00107]
インフリキシマブ [DR:D02598]
テトラコサクチド酢酸塩 [DR:D02105]
ヒドロコルチゾン [DR:D00088]
ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
コルチゾン酢酸エステル [DR:D00973]
トリアムシノロン [DR:D00385]
ベタメタゾン [DR:D00244]
ベタメタゾン酢酸エステル・ベタメタゾンリン酸エステルナトリウム [DR:D04446]
プレドニゾロン [DR:D00472]
プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
メチルプレドニゾロン [DR:D00407]
メチルプレドニゾロン酢酸エステル [DR:D00979]
ヘパリン類似物質・副腎エキス・サリチル酸 [DR:D04800]
メトトレキサート [DR:D00142]
レフルノミド [DR:D00749]
アバタセプト [DR:D03203]
トファシチニブクエン酸塩 [DR:D09783]
バリシチニブ [DR:D10308]
ウパダシチニブ水和物 [DR:D11048]
フィルゴチニブマレイン酸塩 [DR:D11106]
ペフィシチニブ臭化水素酸塩 [DR:D10721]
エタネルセプト [DR:D00742]
アダリムマブ [DR:D02597]
セルトリズマブペゴル [DR:D03441]
ゴリムマブ [DR:D04358]
サリルマブ [DR:D10161]
デノスマブ [DR:D03684]
イグラチモド [DR:D01146]
ミゾリビン [DR:D01392]
オーラノフィン [DR:D00237]
越婢加朮湯 [DR:D06921]
葛根加朮附湯 [DR:D06927]
桂枝加朮附湯 [DR:D06944]
桂枝湯 [DR:D06947]
桂芍知母湯 [DR:D06951]
芍薬甘草附子湯 [DR:D06980]
大防風湯 [DR:D07007]
防已黄耆湯エキス [DR:D07040]
麻黄湯エキス [DR:D07042]
麻杏薏甘湯 [DR:D07045]
サラゾスルファピリジン [DR:D00448]
トシリズマブ [DR:D02596]
リンク   
ICD-11: FA20
ICD-10: M05
MeSH: D001172
OMIM: 180300 604302
文献    
  著者
Chung IM, Ketharnathan S, Thiruvengadam M, Rajakumar G
  タイトル
Rheumatoid Arthritis: The Stride from Research to Clinical Practice.
  雑誌
Int J Mol Sci 17:E900 (2016)
DOI:10.3390/ijms17060900
文献    
  著者
Boissier MC, Semerano L, Challal S, Saidenberg-Kermanac'h N, Falgarone G
  タイトル
Rheumatoid arthritis: from autoimmunity to synovitis and joint destruction.
  雑誌
J Autoimmun 39:222-8 (2012)
DOI:10.1016/j.jaut.2012.05.021
文献    
  著者
Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, Suzuki M, Nagasaki M, Ohtsuki M, Ono M, Furukawa H, Nagashima M, Yoshino S, Mabuchi A, Sekine A, Saito S, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K
  タイトル
An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis.
  雑誌
Nat Genet 35:341-8 (2003)
DOI:10.1038/ng1267
文献    
  著者
Dawidowicz K, Allanore Y, Guedj M, Pierlot C, Bombardieri S, Balsa A, Westhovens R, Barrera P, Alves H, Teixeira VH, Petit-Teixeira E, van de Putte L, van Riel P, Prum B, Bardin T, Meyer O, Cornelis F, Dieude P
  タイトル
The interferon regulatory factor 5 gene confers susceptibility to rheumatoid arthritis and influences its erosive phenotype.
  雑誌
Ann Rheum Dis 70:117-21 (2011)
DOI:10.1136/ard.2010.129171
文献    
  著者
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
  タイトル
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.
  雑誌
Am J Hum Genet 75:330-7 (2004)
DOI:10.1086/422827
文献    
  著者
Marinou I, Healy J, Mewar D, Moore DJ, Dickson MC, Binks MH, Montgomery DS, Walters K, Wilson AG
  タイトル
Association of interleukin-6 and interleukin-10 genotypes with radiographic damage in rheumatoid arthritis is dependent on autoantibody status.
  雑誌
Arthritis Rheum 56:2549-56 (2007)
DOI:10.1002/art.22814
文献    
  著者
Swanberg M, Lidman O, Padyukov L, Eriksson P, Akesson E, Jagodic M, Lobell A, Khademi M, Borjesson O, Lindgren CM, Lundman P, Brookes AJ, Kere J, Luthman H, Alfredsson L, Hillert J, Klareskog L, Hamsten A, Piehl F, Olsson T
  タイトル
MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction.
  雑誌
Nat Genet 37:486-94 (2005)
DOI:10.1038/ng1544
文献    
  著者
Okamoto K, Makino S, Yoshikawa Y, Takaki A, Nagatsuka Y, Ota M, Tamiya G, Kimura A, Bahram S, Inoko H
  タイトル
Identification of I kappa BL as the second major histocompatibility complex-linked susceptibility locus for rheumatoid arthritis.
  雑誌
Am J Hum Genet 72:303-12 (2003)
DOI:10.1086/346067
文献    
  著者
Suzuki A, Yamada R, Kochi Y, Sawada T, Okada Y, Matsuda K, Kamatani Y, Mori M, Shimane K, Hirabayashi Y, Takahashi A, Tsunoda T, Miyatake A, Kubo M, Kamatani N, Nakamura Y, Yamamoto K
  タイトル
Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population.
  雑誌
Nat Genet 40:1224-9 (2008)
DOI:10.1038/ng.205
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