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Shared genetic variants suggest common pathways in allergy and autoimmune diseases  Eskil Kreiner, MD, PhD, Johannes Waage, PhD, Marie Standl, PhD, Susanne.

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Presentation on theme: "Shared genetic variants suggest common pathways in allergy and autoimmune diseases  Eskil Kreiner, MD, PhD, Johannes Waage, PhD, Marie Standl, PhD, Susanne."— Presentation transcript:

1 Shared genetic variants suggest common pathways in allergy and autoimmune diseases 
Eskil Kreiner, MD, PhD, Johannes Waage, PhD, Marie Standl, PhD, Susanne Brix, PhD, Tune H. Pers, PhD, Alexessander Couto Alves, PhD, Nicole M. Warrington, PhD, Carla M.T. Tiesler, MSc, Elaine Fuertes, PhD, Lude Franke, PhD, Joel N. Hirschhorn, MD, PhD, Alan James, MD, Angela Simpson, MD, PhD, Joyce Y. Tung, PhD, Gerard H. Koppelman, MD, PhD, Dirkje S. Postma, MD, PhD, Craig E. Pennell, MD, PhD, Marjo-Riitta Jarvelin, MD, Adnan Custovic, MD, PhD, Nicholas Timpson, PhD, Manuel A. Ferreira, PhD, David P. Strachan, MD, John Henderson, MD, David Hinds, PhD, Hans Bisgaard, MD, DMSc, Klaus Bønnelykke, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 140, Issue 3, Pages (September 2017) DOI: /j.jaci Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Journal of Allergy and Clinical Immunology 2017 140, 771-781DOI: (10
Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig 1 Commonalities in susceptibility loci and genetic pathways between patients with allergy and those with autoimmune diseases. A, Autoimmune disease–associated loci and their association with allergy. Quantile-quantile plots representing the observed versus expected P values in the combined allergy GWAS for all 290 candidate autoimmune disease–associated loci (large panel) and separately for selected autoimmune diseases (smaller panels) are shown. The solid line reflects the P value distribution under the null, whereas the dashed line is the distribution of all SNPs from the allergy meta-analysis. T1D, Type 1 diabetes. B, Commonalities in genetic pathways. PCA of the DEPICT gene set enrichment results based on trait-associated variants for 123 traits from the GWAS catalog and allergy. The blue area represents the shared minimal ellipsoid area of allergy and autoimmune diseases. IBD, inflammatory bowel disease. Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Fig 2 Pathway-based analysis of common loci PCA of DEPICT gene set enrichment results based on the 29 common loci between allergy and autoimmune diseases, with each dot representing a single enriched gene set. Loadings for the index genes are illustrated by arrows. Genes denoted in blue and orange represent same and opposite directions of effect for allergy, respectively compared with index autoimmune disease. For genes denoted in gray, index autoimmune disease did not report effect allele. The blue areas represent cohesive clusters of gene sets with similar immune function. The individual gene set names are shown in Fig E16. Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

5 Fig 3 Common and disease-specific genetic pathways. DEPICT gene set enrichment map of common (blue circles), allergy-specific (red circles), and Crohn disease–specific (green circles) pathways. Correlation between pathways is depicted by line width. Sets with a correlation of less than 0.4 and singletons are not shown. Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

6 Fig E2 Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

7 Fig E3 Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

8 Fig E5 Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

9 Fig E7 Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

10 Fig E8 Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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