Article
Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease.
Nature genetics - 1 Jan 2011
Momozawa Yukihide, Mni Myriam, Nakamura Kayo, Coppieters Wouter, Almer Sven, Amininejad Leila, Cleynen Isabelle, Colombel Jean-Frédéric, de Rijk Peter, Dewit Olivier, Finkel Yigael, Gassull Miquel A, Goossens Dirk, Laukens Debby, Lémann Marc, Libioulle Cécile, 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
Abstract excerpt
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 ∼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...
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