KEGG   DISEASE: 1型糖尿病
エントリ  
H00408                                                             
名称    
1型糖尿病
概要    
The majority of type 1 diabetes mellitus (T1DM) cases are believed to arise from an inflammatory, autoimmune attack against the beta cells in the pancreas, which consequently leads to the failure of insulin-mediated blood glucose regulation in the body. T1DM signs and symptoms can come on quickly and may include increased thirst and frequent urination, fatigue, weight loss and so on. It is recognized that both genetic and environmental determinants are important in defining disease risk. The HLA class II genes are most strongly associated with T1DM. Another plausible candidate genes are INS, CTLA4 and PTPN22. The disease may be a result of variations in several susceptibility genes, with the majority only contributing weak effects.
カテゴリ  
代謝疾患; 免疫系疾患; 内分泌系疾患
階層分類  
ヒト疾患 [BR:jp08402]
 内分泌代謝疾患
  糖尿病
   H00408  1型糖尿病
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  内分泌疾患
   糖尿病
    5A10  1型糖尿病
     H00408  1型糖尿病
パスウェイ 
hsa04940  I 型糖尿病
関連パスウェイ
hsa04659  Th17 cell differentiation
hsa04658  Th1 and Th2 cell differentiation
hsa04672  Intestinal immune network for IgA production
hsa04060  Cytokine-cytokine receptor interaction
hsa04630  JAK-STAT signaling pathway
hsa04151  PI3K-Akt signaling pathway
病因遺伝子 
(T1D2) INS [HSA:3630] [KO:K04526]
(T1D5) SUMO4 [HSA:387082] [KO:K12160]
(T1D10) IL2RA [HSA:3559] [KO:K05068]
(T1D12) CTLA4 [HSA:1493] [KO:K06538]
(T1D20) HNF1A [HSA:6927] [KO:K08036]
(T1D22) CCR5 [HSA:1234] [KO:K04180]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
HLA-DQA1 [HSA:3117] [KO:K06752]
PTPN22 [HSA:26191] [KO:K18024]
PTPN2 [HSA:5771] [KO:K18026]
ERBB3 [HSA:2065] [KO:K05084]
IL2 - IL21 [HSA:3558 59067] [KO:K05429 K05434]
IFIH1 [HSA:64135] [KO:K12647]
CLEC16A [HSA:23274] [KO:K19513]
BACH2 [HSA:60468] [KO:K09042]
CTSH [HSA:1512] [KO:K01366]
SH2B3 [HSA:10019] [KO:K12459]
C12orf30 [HSA:80018] [KO:K17973]
CD226 [HSA:10666] [KO:K06567]
ITPR3 [HSA:3710] [KO:K04960]
CYP27B1 [HSA:1594] [KO:K07438]
治療薬   
ダパグリフロジンプロピレングリコール水和物 [DR:D09763]
インスリン ヒト [DR:D03230]
インスリンリスプロ [DR:D04477]
インスリンアスパルト [DR:D04475]
インスリングルリジン [DR:D04540]
インスリンデグルデク・インスリンアスパルト [DR:D10570]
インスリングラルギン [DR:D03250]
インスリンデテミル [DR:D04539]
インスリンデグルデク [DR:D09727]
マルトース水和物 [DR:D05373]
キシリトール [DR:D00061]
アカルボース [DR:D00216]
ミグリトール [DR:D00625]
ボグリボース [DR:D01665]
イプラグリフロジンL-プロリン [DR:D10200]
リンク   
ICD-11: 5A10
ICD-10: E10
MeSH: D003922
OMIM: 125852 600320 601942 601388 612520 612522 222100
文献    
  著者
Concannon P, Rich SS, Nepom GT
  タイトル
Genetics of type 1A diabetes.
  雑誌
N Engl J Med 360:1646-54 (2009)
DOI:10.1056/NEJMra0808284
文献    
  著者
Ounissi-Benkalha H, Polychronakos C
  タイトル
The molecular genetics of type 1 diabetes: new genes and emerging mechanisms.
  雑誌
Trends Mol Med 14:268-75 (2008)
DOI:10.1016/j.molmed.2008.04.002
文献    
PMID:18192540 (INS)
  著者
Molven A, Ringdal M, Nordbo AM, Raeder H, Stoy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Sovik O, Bell GI, Njolstad PR
  タイトル
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
  雑誌
Diabetes 57:1131-5 (2008)
DOI:10.2337/db07-1467
文献    
PMID:15247916 (SUMO4)
  著者
Guo D, Li M, Zhang Y, Yang P, Eckenrode S, Hopkins D, Zheng W, Purohit S, Podolsky RH, Muir A, Wang J, Dong Z, Brusko T, Atkinson M, Pozzilli P, Zeidler A, Raffel LJ, Jacob CO, Park Y, Serrano-Rios M, Larrad MT, Zhang Z, Garchon HJ, Bach JF, Rotter JI, She JX, Wang CY
  タイトル
A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes.
  雑誌
Nat Genet 36:837-41 (2004)
DOI:10.1038/ng1391
文献    
PMID:15776395 (IL2RA)
  著者
Vella A, Cooper JD, Lowe CE, Walker N, Nutland S, Widmer B, Jones R, Ring SM, McArdle W, Pembrey ME, Strachan DP, Dunger DB, Twells RC, Clayton DG, Todd JA
  タイトル
Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms.
  雑誌
Am J Hum Genet 76:773-9 (2005)
DOI:10.1086/429843
文献    
PMID:8817351 (CTLA4)
  著者
Nistico L, Buzzetti R, Pritchard LE, Van der Auwera B, Giovannini C, Bosi E, Larrad MT, Rios MS, Chow CC, Cockram CS, Jacobs K, Mijovic C, Bain SC, Barnett AH, Vandewalle CL, Schuit F, Gorus FK, Tosi R, Pozzilli P, Todd JA
  タイトル
The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry.
  雑誌
Hum Mol Genet 5:1075-80 (1996)
DOI:10.1093/hmg/5.7.1075
文献    
PMID:9313763 (HNF1A)
  著者
Yamada S, Nishigori H, Onda H, Utsugi T, Yanagawa T, Maruyama T, Onigata K, Nagashima K, Nagai R, Morikawa A, Takeuchi T, Takeda J
  タイトル
Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM.
  雑誌
Diabetes 46:1643-7 (1997)
DOI:10.2337/diacare.46.10.1643
文献    
PMID:19073967 (CCR5)
  著者
Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA, Todd JA
  タイトル
Shared and distinct genetic variants in type 1 diabetes and celiac disease.
  雑誌
N Engl J Med 359:2767-77 (2008)
DOI:10.1056/NEJMoa0807917
文献    
PMID:22106694 (HLA-DRB1 HLA-DQB1 HLA-DQA1)
  著者
Rohana AG, Loh KC, Tin SK, Soh CH, Nazaimoon WM, Fong KY, Azmi KN, Khalid BA
  タイトル
HLA-DQA1, -DQB1 and -DRB1 gene polymorphism--in Malay type 1 diabetes mellitus patients and their use for risk prediction.
  雑誌
Med J Malaysia 66:133-7 (2011)
文献    
PMID:25729936 (PTPN22)
  著者
Liu HW, Xu RY, Sun RP, Wang Q, Liu JL, Ge W, Yu Z
  タイトル
Association of PTPN22 gene polymorphism with type 1 diabetes mellitus in Chinese children and adolescents.
  雑誌
Genet Mol Res 14:63-8 (2015)
DOI:10.4238/2015.January.15.8
文献    
PMID:26344020 (PTPN2)
  著者
Peng H, Li J, Chen X, Zhou X, Zhu W, Li F
  タイトル
Genetic Variants of PTPN2 Gene in Chinese Children with Type 1 Diabetes Mellitus.
  雑誌
Med Sci Monit 21:2653-8 (2015)
DOI:10.12659/MSM.893607
文献    
PMID:29109006 (ERBB3)
  著者
Lemos NE, Dieter C, Dorfman LE, Assmann TS, Duarte GCK, Canani LH, Bauer AC, Crispim D
  タイトル
The rs2292239 polymorphism in ERBB3 gene is associated with risk for type 1 diabetes mellitus in a Brazilian population.
  雑誌
Gene 644:122-128 (2018)
DOI:10.1016/j.gene.2017.11.009
文献    
PMID:34328597 (IL2 IL21)
  著者
Khalil RG, Abdel-Moneim A, Yousef AI, Abdel-Rahman H, Zanaty MI, El-Sayed A
  タイトル
Association of interleukin-2, interleukin-21 and interleukin-23 with hyperlipidemia in pediatric type 1 diabetes.
  雑誌
Mol Biol Rep 48:5421-5433 (2021)
DOI:10.1007/s11033-021-06545-0
文献    
PMID:28929635 (IFIH1)
  著者
Jermendy A, Szatmari I, Korner A, Szabo AJ, Toth-Heyn P, Hermann R
  タイトル
Association between interferon-induced helicase (IFIH1) rs1990760 polymorphism and seasonal variation in the onset of type 1 diabetes mellitus.
  雑誌
Pediatr Diabetes 19:300-304 (2018)
DOI:10.1111/pedi.12569
文献    
PMID:31570815 (CLEC16A)
  著者
Gingerich MA, Sidarala V, Soleimanpour SA
  タイトル
Clarifying the function of genes at the chromosome 16p13 locus in type 1 diabetes: CLEC16A and DEXI.
  雑誌
Genes Immun 21:79-82 (2020)
DOI:10.1038/s41435-019-0087-7
文献    
PMID:32236312 (BACH2)
  著者
Dieter C, Lemos NE, Dorfman LE, Duarte GCK, Assmann TS, Crispim D
  タイトル
The rs11755527 polymorphism in the BACH2 gene and type 1 diabetes mellitus: case control study in a Brazilian population.
  雑誌
Arch Endocrinol Metab 64:138-143 (2020)
DOI:10.20945/2359-3997000000214
文献    
PMID:24982147 (CTSH)
  著者
Floyel T, Brorsson C, Nielsen LB, Miani M, Bang-Berthelsen CH, Friedrichsen M, Overgaard AJ, Berchtold LA, Wiberg A, Poulsen P, Hansen L, Rosinger S, Boehm BO, Ram R, Nguyen Q, Mehta M, Morahan G, Concannon P, Bergholdt R, Nielsen JH, Reinheckel T, von Herrath M, Vaag A, Eizirik DL, Mortensen HB, Storling J, Pociot F
  タイトル
CTSH regulates beta-cell function and disease progression in newly diagnosed type 1 diabetes patients.
  雑誌
Proc Natl Acad Sci U S A 111:10305-10 (2014)
DOI:10.1073/pnas.1402571111
文献    
PMID:20546165 (SH2B3)
  著者
Lavrikova EY, Nikitin AG, Kuraeva TL, Peterkova VA, Tsitlidze NM, Chistiakov DA, Nosikov VV
  タイトル
The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients.
  雑誌
Pediatr Diabetes 12:127-32 (2011)
DOI:10.1111/j.1399-5448.2010.00656.x
文献    
PMID:20089178 (PTPN22 C12orf30 CD226)
  著者
Douroudis K, Kisand K, Nemvalts V, Rajasalu T, Uibo R
  タイトル
Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.
  雑誌
BMC Med Genet 11:11 (2010)
DOI:10.1186/1471-2350-11-11
文献    
PMID:30145014 (CD226)
  著者
Abu El-Ella SS, Khattab ESAEH, El-Mekkawy MS, El-Shamy AA
  タイトル
CD226 gene polymorphism (rs763361 C>T) is associated with susceptibility to type 1 diabetes mellitus among Egyptian children.
  雑誌
Arch Pediatr 25:378-382 (2018)
DOI:10.1016/j.arcped.2018.06.009
文献    
PMID:18340361 (ITPR3)
  著者
Qu HQ, Marchand L, Szymborski A, Grabs R, Polychronakos C
  タイトル
The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II.
  雑誌
Genes Immun 9:264-6 (2008)
DOI:10.1038/gene.2008.12
文献    
PMID:15225764 (CYP27B1)
  著者
Lopez ER, Regulla K, Pani MA, Krause M, Usadel KH, Badenhoop K
  タイトル
CYP27B1 polymorphisms variants are associated with type 1 diabetes mellitus in Germans.
  雑誌
J Steroid Biochem Mol Biol 89-90:155-7 (2004)
DOI:10.1016/j.jsbmb.2004.03.095
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