Title: Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease
Authors: Momozawa, Yukihide ×
Mni, Myriam
Nakamura, Kayo
Coppieters, Wouter
Almer, Sven
Amininejad, Leila
Cleynen, Isabelle
Colombel, Jean-Frederic
de Rijk, Peter
Dewit, Olivier
Finkel, Yigael
Gassull, Miquel A
Goossens, Dirk
Laukens, Debby
Lemann, Marc
Libioulle, Cecile
O'Morain, Colm
Reenaers, Catherine
Rutgeerts, Paul
Tysk, Curt
Zelenika, Diana
Lathrop, Mark
Del-Favero, Jurgen
Hugot, Jean-Pierre
de Vos, Martine
Franchimont, Denis
Vermeire, Severine
Louis, Edouard
Georges, Michel #
Issue Date: Jan-2011
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:43 issue:1 pages:43-U58
Abstract: Genome-wide association studies (GWAS) have identified dozens of risk loci for many complex disorders, including Crohn's disease(1,2). However, common disease-associated SNPs explain at most similar to 20% of the genetic variance for Crohn's disease. Several factors may account for this unexplained heritability(3-5), including rare risk variants not adequately tagged thus far in GWAS(6-8). That rare susceptibility variants indeed contribute to variation in multifactorial phenotypes has been demonstrated for colorectal cancer(9), plasma high-density lipoprotein cholesterol levels(10), blood pressure(11), type 1 diabetes(12), hypertriglyceridemia(13) 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.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Research in GastroIntestinal Disorders
× corresponding author
# (joint) last author

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