文献リスト

1) Halme L, Paavola-Sakki P, Turunen U, et al. Family and twin studies in inflammatory bowel disease. World J Gastroenterol. 2006; 12: 3668-72

2) Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 2001; 411: 599-603

3) Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature. 2001; 411: 603-6

4) Peltekova VD, Wintle RF, Rubin LA, et al. Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet. 2004; 36: 471-5

5) Stoll M, Corneliussen B, Costello CM, et al. Genetic variation in DLG5 is associated with inflammatory bowel disease. Nat Genet. 2004; 36: 476-80

6) Yamazaki K, McGovern D, Ragoussis J, et al. Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum Mol Genet. 2005; 14: 3499-506

7) Duerr RH, Taylor KD, Brant SR, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science. 2006; 314: 1461-3

8) Hampe J, Franke A, Rosenstiel P, et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet. 2007; 39: 207-11

9) Silverberg MS, Cho JH, Rioux JD, et al. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. Nat Genet. 2009; 41: 216-20

10) Franke A, Balschun T, Karlsen TH, et al. Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet. 2008; 40: 1319-23

11) Barrett JC, Lee JC, Lees CW, et al. Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet. 2009; 41: 1330-4

12) Franke A, Balschun T, Sina C, et al. Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13(IL17REL). Nat Genet. 2009; 42: 292-4

13) McGovern DP, Gardet A, Torkvist L, et al. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. Nat Genet. 2010; 42: 332-7

14) Asano K, Matsushita T, Umeno J, et al. A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. Nat Genet. 2009; 41: 1325-9

15) Kugathasan S, Baldassano RN, Bradfield JP, et al. Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nat Genet. 2008; 40: 1211-5

16) Imielinski M, Baldassano RN, Griffiths A, et al. Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet. 2009; 41: 1335-40

17) Rosenstiel P, Sina C, Franke A, et al. Towards a molecular risk map-recent advances on the etiology of inflammatory bowel disease. Semin Immunol. 2009; 21: 334-45

18) Imielinski M, Hakonarson H. Breaking new ground in inflammatory bowel disease genetics: genome-wide association studies and beyond. Pharmacogenomics. 2010; 11: 663-5

19) Halfvarson J, Bodin L, Tysk C, et al. Inflammatory bowel disease in a Swedish twin cohort: a long-term follow-up of concordance and clinical characteristics. Gastroenterology. 2003; 124: 1767-73

20) Satsangi J, Welsh KI, Bunce M, et al. Contribution of genes of the major histocompatibility complex to susceptibility and disease phenotype in inflammatory bowel disease. Lancet. 1996; 347: 1212-7

21) Fernando MM, Stevens CR, Walsh EC, et al. Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet. 2008; 4(4): e1000024

22) Stokkers PC, Reitsma PH, Tytgat GN, et al. HLA-DR and -DQ phenotypes in inflammatory bowel disease: a meta-analysis. Gut. 1999; 45: 395-401

23) Nomura E, Kinouchi Y, Negoro K, et al. Mapping of a disease susceptibility locus in chromosome 6p in Japanese patients with ulcerative colitis. Genes Immun. 2004; 5: 477-83

24) Chervonsky AV. Influence of microbial environment on autoimmunity. Nat Immunol. 2009; 11: 28-35

25) Huang J, Zarnitsyna VI, Liu B, et al. The kinetics of two-dimensional TCR and pMHC interactions determine T-cell responsiveness. Nature. 2010; 464: 932-6

26) Kakuta Y, Ueki N, Kinouchi Y, et al. TNFSF15 transcripts from risk haplotype for Crohn's disease are overexpressed in stimulated T cells. Hum Mol Genet. 2009; 18: 1089-98

27) Takedatsu H, Michelsen KS, Wei B, et al. TL1A(TNFSF15)regulates the development of chronic colitis by modulating both T-helper 1 and T-helper 17 activation. Gastroenterology. 2008; 135: 552-67

28) Parkes M, Barrett JC, Prescott NJ, et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet. 2007; 39: 830-2

29) McCarroll SA, Huett A, Kuballa P, et al. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet. 2008; 40: 1107-12

30) Barrett JC, Hansoul S, Nicolae DL, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohnʼs disease. Nat Genet. 2008; 40: 955-62

31) Craddock N, Hurles ME, Cardin N, et al. Genome-wide association study of CNVs in 16, 000 cases of eight common diseases and 3, 000 shared controls. Nature. 2010; 464: 713-20

32) Kaser A, Lee AH, Franke A, et al. XBP1links ER stress to intestinal inflammation and confers genetic risk for human inflammatory bowel disease. Cell. 2008; 134: 743-56

33) Villani AC, Lemire M, Fortin G, et al. Common variants in the NLRP3 region contribute to Crohn's disease susceptibility. Nat Genet. 2009; 41: 71-6

34) Fisher SA, Tremelling M, Anderson CA, et al. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet. 2008; 40: 710-2

35) Franke A, Balschun T, Karlsen TH, et al. Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet. 2008; 40: 713-5

36) Maeda S, Hsu LC, Liu H, et al. Nod2 mutation in Crohn's disease potentiates NF-kappaB activity and IL-1beta processing. Science. 2005; 307: 734-8

37) Cooney R, Jewell D. The genetic basis of inflammatory bowel disease. Dig Dis. 2009; 27: 428-42

38) Noguchi E, Homma Y, Kang X, et al. A Crohn's disease-associated NOD2 mutation suppresses transcription of human IL10 by inhibiting activity of the nuclear ribonucleoprotein hnRNP-A1. Nat Immunol. 2009; 10: 471-9

39) Saitoh T, Fujita N, Jang MH, et al. Loss of the autophagy protein ATG16L1 enhances endotoxin-induced IL-1beta production. Nature. 2008; 456: 264-8

40) Cadwell K, Liu JY, Brown SL, et al. A key role for autophagy and the autophagy gene ATG16L1 in mouse and human intestinal Paneth cells. Nature. 2008; 456: 259-63

41) Cooney R, Baker J, Brain O, et al. NOD2 stimulation induces autophagy in dendritic cells influencing bacterial handling and antigen presentation. Nat Med. 2009; 16: 90-7

42) Travassos LH, Carneiro LA, Ramjeet M, et al. Nod1 and Nod2 direct autophagy by recruiting ATG16L1 to the plasma membrane at the site of bacterial entry. Nat Immunol. 2010; 11: 55-62

43) Kobayashi T, Okamoto S, Hisamatsu T, et al. IL23 differentially regulates the Th1/Th17 balance in ulcerative colitis and Crohn's disease. Gut. 2008; 57: 1682-9

44) McGeachy MJ, Chen Y, Tato CM, et al. The interleukin 23 receptor is essential for the terminal differentiation of interleukin 17-producing effector T helper cells in vivo. Nat Immunol. 2009; 10: 314-24

45) Rutgeerts P, Vermeire S, Van Assche G. Biological therapies for inflammatory bowel diseases. Gastroenterology. 2009; 136: 1182-97

46) Kuhn R, Lohler J, Rennick D, et al. Interleukin-10-deficient mice develop chronic enterocolitis. Cell. 1993; 75: 263-74

47) Glocker EO, Kotlarz D, Boztug K, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med. 2009; 361: 2033-45

48) Baumgart DC, Sandborn WJ. Inflammatory bowel disease: clinical aspects and established and evolving therapies. Lancet. 2007; 369: 1641-57

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