Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count

Eosinophils play important roles in the release of cytokine mediators in response to inflammation. Many associations between common genetic variants and eosinophils have already been reported, using single nucleotide polymorphism (SNP) array data. Here, we have analyzed 200,000 whole-exome sequences...

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Bibliographic Details
Published inFrontiers in immunology Vol. 13; p. 862255
Main Authors Höglund, Julia, Hadizadeh, Fatemeh, Ek, Weronica E, Karlsson, Torgny, Johansson, Åsa
Format Journal Article
LanguageEnglish
Published Switzerland Frontiers Media S.A 22.07.2022
Subjects
association testing
Eosinophils
Exome
Exome Sequencing
Genome-Wide Association Study
Humans
Immunology
inflammation
Medical Genetics
Medicinsk genetik
Polymorphism, Single Nucleotide
UK Biobank
eosinophils
exome sequencing
association testing
inflammation
UK Biobank
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Summary:Eosinophils play important roles in the release of cytokine mediators in response to inflammation. Many associations between common genetic variants and eosinophils have already been reported, using single nucleotide polymorphism (SNP) array data. Here, we have analyzed 200,000 whole-exome sequences (WES) from the UK Biobank cohort and performed gene-based analyses of eosinophil count. We defined five different variant weighting schemes to incorporate information on both deleteriousness and frequency. A total of 220 genes in 55 distinct (>10 Mb apart) genomic regions were found to be associated with eosinophil count, of which seven genes ( , , , , , , and ) are driven by rare variants, independent of common variants identified in genome-wide association studies. Two additional genes, and , have not been associated with eosinophil count before and are considered novel eosinophil loci. These results increase our knowledge about the effect of rare variants on eosinophil count, which can be of great value for further identification of therapeutic targets.
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Edited by: Pietro Ghezzi, University of Urbino Carlo Bo, Italy
This article was submitted to Inflammation, a section of the journal Frontiers in Immunology
Reviewed by: Maria Pino-Yanes, University of La Laguna, Spain; Jonathan Michael Flanagan, Baylor College of Medicine, United States
ISSN:1664-3224
1664-3224
DOI:10.3389/fimmu.2022.862255