Shared genetic variants suggest common pathways in allergy and autoimmune diseases

Eskil Kreiner-Møller, Johannes Waage, Marie Standl, Susanne Brix Pedersen, Tune Hannes Pers, Alexessander Couto Alves, Nicole M Warrington, Carla Mt Tiesler, Elaine Fuertes, Lude Franke, Joel N. Hirschhorn, Alan James, Angela Simpson, Joyce Y. Tung, Gerard H Koppelman, Dirkje S Postma, Craig E Pennell, Marjo-Riitta Jarvelin, Adnan Custovic, Nicholas TimpsonManuel A. Ferreira, David P Strachan, A John Henderson, David A Hinds, Hans Flinker Bisgaard, Klaus Bønnelykke

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Background: The relationship between allergy and autoimmune disorders is complex and poorly understood.

Objective: To investigate commonalities in genetic loci and pathways between allergy and autoimmune diseases to elucidate shared disease mechanisms.

Methods: We meta-analyzed two GWAS on self-reported allergy and sensitization comprising a total of 62,330 individuals. These results were used to calculate enrichment for SNPs previously associated with autoimmune diseases. Furthermore, we probed for enrichment within genetic pathways and of transcription factor binding sites, and characterized commonalities in the variant burden on tissue-specific regulatory sites by calculating the enrichment of allergy SNPs falling in gene regulatory regions in various cells using Encode Roadmap DHS data, and compared the allergy data with all known diseases.

Conclusion: Among 290 loci previously associated with 16 autoimmune diseases, we found a significant enrichment of loci also associated with allergy (p=1.4e-17) encompassing 29 loci at a false discovery rate
Original languageEnglish
JournalJournal of Allergy and Clinical Immunology
Issue number3
Pages (from-to)771-781
Publication statusPublished - 2017
Externally publishedYes


  • Allergy
  • Autoimmune Disease
  • Autoimmunity
  • Genetic Association Studies
  • Single Nucleotide Polymorphism


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