KEGG   DISEASE: 椎間板症
エントリ  
H02539                                                             
名称    
椎間板症
  下位グループ
腰部椎間板症
概要    
Intervertebral disc degeneration (IDD) is a common musculoskeletal disease associated with genetic factors.
カテゴリ  
筋骨格疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 15 筋骨格系・結合組織の疾患
  脊椎に関連する病態
   脊椎の変性病態
    FA80  椎間板変性症
     H02539  椎間板症
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06539  筋細胞の細胞骨格
   H02539  椎間板症
パスウェイ 
hsa04820  Cytoskeleton in muscle cells
hsa04510  Focal adhesion
hsa04151  PI3K-Akt signaling pathway
hsa04512  ECM-receptor interaction
ネットワーク
nt06539 Cytoskeleton in muscle cells
病因遺伝子 
COL11A1 [HSA:1301] [KO:K19721]
COL9A3 [HSA:1299] [KO:K08131]
THBS2 [HSA:7058] [KO:K04659]
ASPN [HSA:54829] [KO:K08120]
CILP [HSA:8483] [KO:K24436]
リンク   
ICD-11: FA80
MeSH: D055959
OMIM: 603932
文献    
  著者
Huang D, Deng X, Ma K, Wu F, Shi D, Liang H, Chen S, Shao Z
  タイトル
Association of COL9A3 trp3 polymorphism with intervertebral disk degeneration: a meta-analysis.
  雑誌
BMC Musculoskelet Disord 19:381 (2018)
DOI:10.1186/s12891-018-2297-y
文献    
  著者
Mio F, Chiba K, Hirose Y, Kawaguchi Y, Mikami Y, Oya T, Mori M, Kamata M, Matsumoto M, Ozaki K, Tanaka T, Takahashi A, Kubo T, Kimura T, Toyama Y, Ikegawa S
  タイトル
A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.
  雑誌
Am J Hum Genet 81:1271-7 (2007)
DOI:10.1086/522377
文献    
  著者
Hirose Y, Chiba K, Karasugi T, Nakajima M, Kawaguchi Y, Mikami Y, Furuichi T, Mio F, Miyake A, Miyamoto T, Ozaki K, Takahashi A, Mizuta H, Kubo T, Kimura T, Tanaka T, Toyama Y, Ikegawa S
  タイトル
A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.
  雑誌
Am J Hum Genet 82:1122-9 (2008)
DOI:10.1016/j.ajhg.2008.03.013
文献    
  著者
Song YQ, Cheung KM, Ho DW, Poon SC, Chiba K, Kawaguchi Y, Hirose Y, Alini M, Grad S, Yee AF, Leong JC, Luk KD, Yip SP, Karppinen J, Cheah KS, Sham P, Ikegawa S, Chan D
  タイトル
Association of the asporin D14 allele with lumbar-disc degeneration in Asians.
  雑誌
Am J Hum Genet 82:744-7 (2008)
DOI:10.1016/j.ajhg.2007.12.017
文献    
  著者
Seki S, Kawaguchi Y, Chiba K, Mikami Y, Kizawa H, Oya T, Mio F, Mori M, Miyamoto Y, Masuda I, Tsunoda T, Kamata M, Kubo T, Toyama Y, Kimura T, Nakamura Y, Ikegawa S
  タイトル
A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.
  雑誌
Nat Genet 37:607-12 (2005)
DOI:10.1038/ng1557
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