A genome-wide association study of allergic rhinitis in 216 361 individuals identifies several novel susceptibility loci and increases knowledge on genetic pathways and cell types involved in disease etiology

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Background: Allergic rhinitis (AR) is the most common clinical presentation of allergy. The disease currently affects 400 million people worldwide with major impact on quality of life and health care expenditures, and the incidence is increasing in westernized countries. Only a few genome-wide association studies (GWAS) of small sample sizes have been performed on this phenotype and our knowledge on the genetic background is therefore limited. Method: We carried out the largest GWAS to date of AR by meta-analysis of 1000G- imputed data from 20 cohorts of European descent, including 60 703 cases and 155 658 controls using a fixed effects model. In addition, we employed gene-set enrichment tools MAGENTA and DEPICT to investigate biological pathways enriched for variants associated with AR, and investigated the cell-type specific variant burden by exploiting publicly available datasets on epigenetic marks. Results: We identified 37 loci associated with AR with genome-wide level significance, most of which are in or near genes associated with immune functions, and show a substantial overlap with hits from genetic studies of autoimmune and atopic disorders. Additionally, 8 loci have not previously been associated with AR or any related trait. Initial gene set enrichment analyses show involvement of several immune pathways in the aetiology of AR. Finally, variants associated with AR are enriched in a specific subset of relevant immune cells. Conclusion: This study substantially increases the number of known susceptibility loci for allergic rhinitis and our insight into the genetic background of the disease. Future studies based upon these finding may open up new possibilities for therapy and prevention.




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