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Rare-variant collapsing analyses of asthma in the UK biobank

Zöller, Bengt LU orcid ; Manderstedt, Eric LU ; Lind-Halldén, Christina LU and Halldén, Christer LU (2025) In Respiratory Investigation 63(5). p.723-725
Abstract

Asthma is a common health problem. Both common and rare genetic risk factors may contribute to asthma, but few large-scale whole-exome sequencing studies elucidating the contribution of rare variations to asthma have been published. Two published UK Biobank portals: the Genebass portal (N = 269,171) and the Astra Zeneca portal (N = 484,111) (https://azphewas.com/and https://app.genebass.org/) were used to access gene collapsing analysis of rare variations for asthma. A conservative threshold (p ≤ 2 × 10−9) was used to decrease the risk of spurious associations. Rare variations in two genes were significantly linked to asthma (Il33, FLG). Both genes have previously been linked to asthma in genome-wide association studies. The strongest... (More)

Asthma is a common health problem. Both common and rare genetic risk factors may contribute to asthma, but few large-scale whole-exome sequencing studies elucidating the contribution of rare variations to asthma have been published. Two published UK Biobank portals: the Genebass portal (N = 269,171) and the Astra Zeneca portal (N = 484,111) (https://azphewas.com/and https://app.genebass.org/) were used to access gene collapsing analysis of rare variations for asthma. A conservative threshold (p ≤ 2 × 10−9) was used to decrease the risk of spurious associations. Rare variations in two genes were significantly linked to asthma (Il33, FLG). Both genes have previously been linked to asthma in genome-wide association studies. The strongest non-significant gene was CSF2RA with a p-value of 6.09e-8. In conclusion, no novel significant asthma loci were identified using gene collapsing analyses. Future rare variant analysis studies of asthma need to refine phenotypic classification and incorporating diverse populations.

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author
; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Asthma, Exome sequencing, Genetics, Molecular epidemiology
in
Respiratory Investigation
volume
63
issue
5
pages
3 pages
publisher
Elsevier
external identifiers
  • pmid:40499455
  • scopus:105007448674
ISSN
2212-5345
DOI
10.1016/j.resinv.2025.05.016
language
English
LU publication?
yes
additional info
Publisher Copyright: © 2025 The Author
id
e787b196-7125-4f5c-8af7-28d28c908bc9
date added to LUP
2025-12-01 12:41:21
date last changed
2025-12-15 14:10:17
@article{e787b196-7125-4f5c-8af7-28d28c908bc9,
  abstract     = {{<p>Asthma is a common health problem. Both common and rare genetic risk factors may contribute to asthma, but few large-scale whole-exome sequencing studies elucidating the contribution of rare variations to asthma have been published. Two published UK Biobank portals: the Genebass portal (N = 269,171) and the Astra Zeneca portal (N = 484,111) (https://azphewas.com/and https://app.genebass.org/) were used to access gene collapsing analysis of rare variations for asthma. A conservative threshold (p ≤ 2 × 10−9) was used to decrease the risk of spurious associations. Rare variations in two genes were significantly linked to asthma (Il33, FLG). Both genes have previously been linked to asthma in genome-wide association studies. The strongest non-significant gene was CSF2RA with a p-value of 6.09e-8. In conclusion, no novel significant asthma loci were identified using gene collapsing analyses. Future rare variant analysis studies of asthma need to refine phenotypic classification and incorporating diverse populations.</p>}},
  author       = {{Zöller, Bengt and Manderstedt, Eric and Lind-Halldén, Christina and Halldén, Christer}},
  issn         = {{2212-5345}},
  keywords     = {{Asthma; Exome sequencing; Genetics; Molecular epidemiology}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{723--725}},
  publisher    = {{Elsevier}},
  series       = {{Respiratory Investigation}},
  title        = {{Rare-variant collapsing analyses of asthma in the UK biobank}},
  url          = {{http://dx.doi.org/10.1016/j.resinv.2025.05.016}},
  doi          = {{10.1016/j.resinv.2025.05.016}},
  volume       = {{63}},
  year         = {{2025}},
}