Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

Manuel A. Rivas; Melissa Beaudoin; Agnes Gardet; Christine Stevens; Yashoda Sharma; Clarence K. Zhang; Gabrielle Boucher; Stephan Ripke; David Ellinghaus; Noel Burtt; Tim Fennell; Andrew Kirby; Anna Latiano; Philippe Goyette; Todd Green; Jonas Halfvarson; Talin Haritunians; Joshua M. Korn; Finny Kuruvilla; Caroline Lagacé; Benjamin Neale; Ken Sin Lo; Phil Schumm; Leif Törkvist; NIDDK IBD Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium; Marla Dubinsky; Steven R. Brant; Mark Silverberg; Richard H. Duerr; David Altshuler; Stacey Gabriel; Guillaume Lettre; Andre Franke; Mauro D’Amato; Dermot P.B. McGovern; Judy H. Cho; John D. Rioux; Ramnik J. Xavier; Mark J. Daly

doi:10.1038/ng.952

Figure 2

An external file that holds a picture, illustration, etc.
Object name is nihms335188f2.jpg

CARD9 protective splice site variant and predicted transcript

(a) A splice-site variant IVS11+1C>G (OR = 0.29) conferring protection against Crohn’s disease with predicted transcript. This hypothetical transcript has been observed in spleen, lymph-node and peripheral blood mononuclear cell (PBMC) derived CDNA libraries. We predict exon 11 to be skipped and alternative transcript to include exon 9 mRNA sequence continuing to exon 12 including 21 AA before reaching a premature stop.