Editorial: Gene–Gene Interactions in Inflammatory Bowel Disease: Biological and Clinical Implications
作者： Jean-Paul Achkar , Claudio Fiocchi
DOI: 10.1038/AJG.2009.179
关键词: Identification (biology) 、 Epistasis 、 Gene 、 Medicine 、 Inflammatory bowel disease 、 Disease pathogenesis 、 Disease 、 Functional studies 、 Genetic association 、 Immunology
摘要: The results of recently completed genome-wide association studies have advanced knowledge inflammatory bowel disease (IBD) genetics, including the identification over 30 genes or loci associated with Crohn's (CD). possibility interactions between genes, referred to by term epistasis, needs be carefully considered as both genetic and functional in IBD move forward. We review a paper this issue Journal that reports evidence epistasis CD, we discuss important issues arise when trying determine whether there is indeed interaction what their potential implications for pathogenesis clinical outcome might be.
nature.com
ccf.org 参考文章(14)
Jean-Pierre Hugot, Mathias Chamaillard, Habib Zouali, Suzanne Lesage, Jean-Pierre Cézard, Jacques Belaiche, Sven Almer, Curt Tysk, Colm A. O'Morain, Miquel Gassull, Vibeke Binder, Yigael Finkel, Antoine Cortot, Robert Modigliani, Pierre Laurent-Puig, Corine Gower-Rousseau, Jeanne Macry, Jean-Frédéric Colombel, Mourad Sahbatou, Gilles Thomas, Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease Nature. ,vol. 411, pp. 599- 603 ,(2001) , 10.1038/35079107
Yasunori Ogura, Denise K. Bonen, Naohiro Inohara, Dan L. Nicolae, Felicia F. Chen, Richard Ramos, Heidi Britton, Thomas Moran, Reda Karaliuskas, Richard H. Duerr, Jean-Paul Achkar, Steven R. Brant, Theodore M. Bayless, Barbara S. Kirschner, Stephen B. Hanauer, Gabriel Nuñez, Judy H. Cho, A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease Nature. ,vol. 411, pp. 603- 606 ,(2001) , 10.1038/35079114
Helga P Török, Jürgen Glas, Ilona Endres, Laurian Tonenchi, Molla Y Teshome, Martin Wetzke, Wolfram Klein, Peter Lohse, Thomas Ochsenkühn, Matthias Folwaczny, Burkhard Göke, Christian Folwaczny, Bertram Müller-Myhsok, Stephan Brand, Epistasis Between Toll-Like Receptor-9 Polymorphisms and Variants in NOD2 and IL23R Modulates Susceptibility to Crohn's Disease The American Journal of Gastroenterology. ,vol. 104, pp. 1723- 1733 ,(2009) , 10.1038/AJG.2009.184
Jason H. Moore, The Ubiquitous Nature of Epistasis in Determining Susceptibility to Common Human Diseases Human Heredity. ,vol. 56, pp. 73- 82 ,(2003) , 10.1159/000073735
Helga-Paula Török, Jürgen Glas, Laurian Tonenchi, Guenter Bruennler, Matthias Folwaczny, Christian Folwaczny, Crohn’s disease is associated with a toll-like receptor-9 polymorphism Gastroenterology. ,vol. 127, pp. 365- 366 ,(2004) , 10.1053/J.GASTRO.2004.05.051
Mark S Silverberg, Judy H Cho, John D Rioux, Dermot P B McGovern, Jing Wu, Vito Annese, Jean-Paul Achkar, Philippe Goyette, Regan Scott, Wei Xu, M Michael Barmada, Lambertus Klei, Mark J Daly, Clara Abraham, Theodore M Bayless, Fabrizio Bossa, Anne M Griffiths, Andrew F Ippoliti, Raymond G Lahaie, Anna Latiano, Pierre Paré, Deborah D Proctor, Miguel D Regueiro, A Hillary Steinhart, Stephan R Targan, L Philip Schumm, Emily O Kistner, Annette T Lee, Peter K Gregersen, Jerome I Rotter, Steven R Brant, Kent D Taylor, Kathryn Roeder, Richard H Duerr, Ulcerative colitis–risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study Nature Genetics. ,vol. 41, pp. 216- 220 ,(2009) , 10.1038/NG.275
Peter Donnelly, Progress and challenges in genome-wide association studies in humans Nature. ,vol. 456, pp. 728- 731 ,(2008) , 10.1038/NATURE07631
Ronald L. Nagel, Epistasis and the genetics of human diseases Comptes Rendus Biologies. ,vol. 328, pp. 606- 615 ,(2005) , 10.1016/J.CRVI.2005.05.003
William G. Hill, Michael E. Goddard, Peter M. Visscher, Data and theory point to mainly additive genetic variance for complex traits PLOS Genetics. ,vol. 4, ,(2005) , 10.1371/JOURNAL.PGEN.1000008
Seth Rakoff-Nahoum, Justin Paglino, Fatima Eslami-Varzaneh, Stephen Edberg, Ruslan Medzhitov, Recognition of Commensal Microflora by Toll-Like Receptors Is Required for Intestinal Homeostasis Cell. ,vol. 118, pp. 229- 241 ,(2004) , 10.1016/J.CELL.2004.07.002