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Volume 148, Issue 4, Pages (April 2015)

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Presentation on theme: "Volume 148, Issue 4, Pages (April 2015)"— Presentation transcript:

1 Volume 148, Issue 4, Pages 794-805 (April 2015)
Identification of Risk Loci for Crohn’s Disease Phenotypes Using a Genome-Wide Association Study  Arnald Alonso, Eugeni Domènech, Antonio Julià, Julián Panés, Valle García-Sánchez, Pilar Nos Mateu, Ana Gutiérrez, Fernando Gomollón, Juan L. Mendoza, Esther Garcia-Planella, Manuel Barreiro-de Acosta, Fernando Muñoz, Maribel Vera, Cristina Saro, Maria Esteve, Montserrat Andreu, Maria Chaparro, Josep Manyé, Eduard Cabré, María López-Lasanta, Raül Tortosa, Josep Lluís Gelpí, Andrés C. García-Montero, Jaume Bertranpetit, Devin Absher, Richard M. Myers, Sara Marsal, Javier P. Gisbert  Gastroenterology  Volume 148, Issue 4, Pages (April 2015) DOI: /j.gastro Copyright © 2015 AGA Institute Terms and Conditions

2 Figure 1 Association between CD phenotypes and NOD2 imputed variants reaching significant values of association. The upward triangles symbolize the NOD2 variant confers risk for A3, B1, L2, or bowel resection. The downward triangles symbolize the risk is conferred for A1/A3, B2/B3, L1, and absence of bowel resection. LD, linkage disequilibrium. Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2015 AGA Institute Terms and Conditions

3 Figure 2 Association statistics for the 4 SNP phenotype validated loci. (A) MAGI1, (B) CLCA2, (C) LY75, and (D) 2q24.1 loci associations with CDC-B2, ileal involvement, erythema nodosum, and MDC, respectively. SNPs annotated in black are the SNPs associated in the GWAS and validated in the replication study. Asterisks indicate imputed SNPs. Green lines outline gene exon locations. Continuous and dashed red lines indicate -log10 (P values) of .05 and .01, respectively. Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2015 AGA Institute Terms and Conditions

4 Figure 3 Association results of the MAGI1 locus and its role in epithelial barrier integrity. (A) rs association with B2 depending on the follow-up cut-off value for B1+ patients. As the cut-off value increases, the number of available B1+ patients decrease (ie, dark blue bars), but the association effect increases (dashed black line). This may be owing to the fact that the larger the follow-up cut-off value the smaller the number of B1 patients who will develop strictures in the future. (B) Kaplan–Meier curves of stricturing onset for risk allele carriers and noncarriers. (C) Kaplan–Meier curves restricted to CD patients who develop stricturing disease during follow-up evaluation. (D) Biological functions of MAGI1 in the intestinal epithelial barrier and previously reported associations with autoimmune diseases. Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2015 AGA Institute Terms and Conditions


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