Article open access publication

Shared genetic variants suggest common pathways in allergy and autoimmune diseases

Journal of Allergy and Clinical Immunology, Elsevier, ISSN 0091-6749

Volume 140, 3, 2017

DOI:10.1016/j.jaci.2016.10.055, Dimensions: pub.1083699727, PMID: 28188724,



  1. (1) COPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen, Denmark
  2. (2) Helmholtz Zentrum München, grid.4567.0
  3. (3) University of Copenhagen, grid.5254.6, KU
  4. (4) State Serum Institute, grid.6203.7
  5. (5) Boston Children's Hospital, grid.2515.3
  6. (6) Broad Institute, grid.66859.34
  7. (7) Imperial College London, grid.7445.2
  8. (8) University of Queensland, grid.1003.2
  9. (9) University of Western Australia, grid.1012.2
  10. (10) Ludwig Maximilian University of Munich, grid.5252.0
  11. (11) Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands
  12. (12) Harvard University, grid.38142.3c
  13. (13) School of Medicine and Pharmacology, University of West Australia, Nedlands, Australia
  14. (14) Sir Charles Gairdner Hospital, grid.3521.5
  15. (15) West Australian Sleep Disorders Research Institute, grid.410689.2
  16. (16) University of Manchester, grid.5379.8
  17. (17) 23andMe (United States), grid.420283.f
  18. (18) University Medical Center Groningen, grid.4494.d
  19. (19) National Institute for Health and Welfare, grid.14758.3f
  20. (20) Oulu University Hospital, grid.412326.0
  21. (21) University of Oulu, grid.10858.34
  22. (22) University of Bristol, grid.5337.2
  23. (23) QIMR Berghofer Medical Research Institute, grid.1049.c
  24. (24) University College London, grid.83440.3b


BACKGROUND: The relationship between allergy and autoimmune disorders is complex and poorly understood. OBJECTIVE: We sought to investigate commonalities in genetic loci and pathways between allergy and autoimmune diseases to elucidate shared disease mechanisms. METHODS: We meta-analyzed 2 genome-wide association studies on self-reported allergy and sensitization comprising a total of 62,330 subjects. These results were used to calculate enrichment for single nucleotide polymorphisms (SNPs) previously associated with autoimmune diseases. Furthermore, we probed for enrichment within genetic pathways and of transcription factor binding sites and characterized commonalities in 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 DNase-hypersensitive site data. Finally, we compared the allergy data with those of all known diseases. RESULTS: 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 of less than 0.05. Such enrichment seemed to be a general characteristic for autoimmune diseases. Among the common loci, 48% had the same direction of effect for allergy and autoimmune diseases. Additionally, we observed an enrichment of allergy SNPs falling within immune pathways and regions of chromatin accessible in immune cells that was also represented in patients with autoimmune diseases but not those with other diseases. CONCLUSION: We identified shared susceptibility loci and commonalities in pathways between allergy and autoimmune diseases, suggesting shared disease mechanisms. Further studies of these shared genetic mechanisms might help in understanding the complex relationship between these diseases, including the parallel increase in disease prevalence.


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2017: Unused

Research area: Medicine

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2017: Level 2

Research area: Medicine

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Times Cited: 20

Field Citation Ratio (FCR): 4.33

Relative Citation ratio (RCR): 1.19

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