Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2009;10:89-116.
doi: 10.1146/annurev-genom-082908-150013.

The Genetics of Crohn's Disease


The Genetics of Crohn's Disease

Johan Van Limbergen et al. Annu Rev Genomics Hum Genet. .


From epidemiological data, based on concordance data in family studies, via linkage analysis to genome-wide association studies, we and others have accumulated robust evidence implicating more than 30 distinct genomic loci involved in the genetic susceptibility to Crohn's disease (CD). These loci encode genes involved in a number of homeostatic mechanisms: innate pattern recognition receptors (NOD2/CARD15, TLR4, CARD9), the differentiation of Th17-lymphocytes (IL-23R, JAK2, STAT3, CCR6, ICOSLG), autophagy (ATG16L1, IRGM, LRRK2), maintenance of epithelial barrier integrity (IBD5, DLG5, PTGER4, ITLN1, DMBT1, XBP1), and the orchestration of the secondary immune response (HLA-region, TNFSF15/TL1A, IRF5, PTPN2, PTPN22, NKX2-3, IL-12B, IL-18RAP, MST1). While many of these loci also predispose to pediatric CD, an additional number of childhood-onset loci have been identified recently (e.g., TNFRSF6B). Not only has the identification of these loci improved our understanding of the pathophysiology of CD, this knowledge also holds real promise for clinical practice.

Similar articles

  • New IBD genetics: common pathways with other diseases.
    Lees CW, Barrett JC, Parkes M, Satsangi J. Lees CW, et al. Gut. 2011 Dec;60(12):1739-53. doi: 10.1136/gut.2009.199679. Epub 2011 Feb 7. Gut. 2011. PMID: 21300624 Review.
  • Role of genetics in the diagnosis and prognosis of Crohn's disease.
    Tsianos EV, Katsanos KH, Tsianos VE. Tsianos EV, et al. World J Gastroenterol. 2011 Dec 28;17(48):5246-59. doi: 10.3748/wjg.v17.i48.5246. World J Gastroenterol. 2011. PMID: 22219593 Free PMC article. Review.
  • Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
    Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmada MM, Bitton A, Dassopoulos T, Datta LW, Green T, Griffiths AM, Kistner EO, Murtha MT, Regueiro MD, Rotter JI, Schumm LP, Steinhart AH, Targan SR, Xavier RJ; NIDDK IBD Genetics Consortium, Libioulle C, Sandor C, Lathrop M, Belaiche J, Dewit O, Gut I, Heath S, Laukens D, Mni M, Rutgeerts P, Van Gossum A, Zelenika D, Franchimont D, Hugot JP, de Vos M, Vermeire S, Louis E; Belgian-French IBD Consortium; Wellcome Trust Case Control Consortium, Cardon LR, Anderson CA, Drummond H, Nimmo E, Ahmad T, Prescott NJ, Onnie CM, Fisher SA, Marchini J, Ghori J, Bumpstead S, Gwilliam R, Tremelling M, Deloukas P, Mansfield J, Jewell D, Satsangi J, Mathew CG, Parkes M, Georges M, Daly MJ. Barrett JC, et al. Nat Genet. 2008 Aug;40(8):955-62. doi: 10.1038/ng.175. Epub 2008 Jun 29. Nat Genet. 2008. PMID: 18587394 Free PMC article.
  • Role of genetics in the diagnosis and prognosis of Crohn's disease.
    Tsianos EV, Katsanos KH, Tsianos VE. Tsianos EV, et al. World J Gastroenterol. 2012 Jan 14;18(2):105-18. doi: 10.3748/wjg.v18.i2.105. World J Gastroenterol. 2012. PMID: 22253516 Free PMC article. Review.
  • A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5.
    Prescott NJ, Fisher SA, Franke A, Hampe J, Onnie CM, Soars D, Bagnall R, Mirza MM, Sanderson J, Forbes A, Mansfield JC, Lewis CM, Schreiber S, Mathew CG. Prescott NJ, et al. Gastroenterology. 2007 May;132(5):1665-71. doi: 10.1053/j.gastro.2007.03.034. Epub 2007 Mar 24. Gastroenterology. 2007. PMID: 17484864
See all similar articles

Cited by 95 articles

See all "Cited by" articles

Publication types

LinkOut - more resources