Reference : Resequencing of positional candidates identifies low frequency IL23R coding variants ...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Human health sciences : Gastroenterology & hepatology
http://hdl.handle.net/2268/101927
Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease.
English
Momozawa, Yukihide [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Mni, Myriam mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale]
Nakamura, Kayo mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale]
Coppieters, Wouter mailto [Université de Liège - ULg > Département de productions animales > Département de productions animales]
Almer, Sven [Linköpings Universitet (Sweden) > Institutionen for molekylär och klinisk medicin (IMK) > Division of Gastroenterology and Hepatology > >]
Amininejad, Leila [Université Libre de Bruxelles - ULB > Erasme Hospital > > Department of Gastroenterology >]
Cleynen, Isabelle [Catholic University of Leuven (Leuven) > Department of Pathophysiology > > >]
Colombel, Jean-Frédéric [> > > >]
de Rijk, Peter [> > > >]
Dewit, Olivier [> > > >]
Finkel, Yigael [> > > >]
Gassull, Miquel A [> > > >]
Goossens, Dirk [> > > >]
Laukens, Debby [> > > >]
Lemann, Marc [> > > >]
LIBIOULLE, Cécile mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique]
O'Morain, Colm [> > > >]
Reenaers, Catherine mailto [Université de Liège - ULg > Département des sciences cliniques > Rhumatologie]
Rutgeerts, Paul [> > > >]
Tysk, Curt [> > > >]
Zelenika, Diana [> > > >]
Lathrop, Mark [> > > >]
Del-Favero, Jurgen [> > > >]
Hugot, Jean-Pierre [> > > >]
De Vos, Martine [> > > >]
Franchimont, Denis [> > > >]
Vermeire, Severine [> > > >]
Louis, Edouard mailto [Université de Liège - ULg > Département des sciences cliniques > Hépato-gastroentérologie >]
Georges, Michel mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
2011
Nature Genetics
Nature Publishing Group
43
1
43-7
Yes (verified by ORBi)
International
1061-4036
1546-1718
New York
NY
[en] Case-Control Studies ; Crohn Disease/genetics ; Genetic Predisposition to Disease ; Genetic Variation ; Genome-Wide Association Study ; Humans ; Inflammatory Bowel Diseases/genetics ; Nod2 Signaling Adaptor Protein/genetics ; Phenotype ; Polymorphism, Single Nucleotide ; Receptors, Interleukin/genetics ; Sequence Analysis, DNA
[en] Genome-wide association studies (GWAS) have identified dozens of risk loci for many complex disorders, including Crohn's disease. However, common disease-associated SNPs explain at most approximately 20% of the genetic variance for Crohn's disease. Several factors may account for this unexplained heritability, including rare risk variants not adequately tagged thus far in GWAS. That rare susceptibility variants indeed contribute to variation in multifactorial phenotypes has been demonstrated for colorectal cancer, plasma high-density lipoprotein cholesterol levels, blood pressure, type 1 diabetes, hypertriglyceridemia and, in the case of Crohn's disease, for NOD2 (refs. 14,15). Here we describe the use of high-throughput resequencing of DNA pools to search for rare coding variants influencing susceptibility to Crohn's disease in 63 GWAS-identified positional candidate genes. We identify low frequency coding variants conferring protection against inflammatory bowel disease in IL23R, but we conclude that rare coding variants in positional candidates do not make a large contribution to inherited predisposition to Crohn's disease.
Researchers ; Professionals
http://hdl.handle.net/2268/101927
also: http://hdl.handle.net/2268/83932
10.1038/ng.733

File(s) associated to this reference

Fulltext file(s):

FileCommentaryVersionSizeAccess
Open access
2010-Resequencing of positional candidates... IL23R...-NatGen-PostPA.pdfAuthor postprint141.47 kBView/Open

Bookmark and Share SFX Query

All documents in ORBi are protected by a user license.