Genetics of Asthma and Allergic Diseases.
Allergic diseases
Asthma
Birth cohorts
GWAS
Gene-environment interactions
Longitudinal data
Machine learning
Phenotypes
Journal
Handbook of experimental pharmacology
ISSN: 0171-2004
Titre abrégé: Handb Exp Pharmacol
Pays: Germany
ID NLM: 7902231
Informations de publication
Date de publication:
2022
2022
Historique:
pubmed:
5
6
2021
medline:
24
11
2021
entrez:
4
6
2021
Statut:
ppublish
Résumé
Asthma genes have been identified through a range of approaches, from candidate gene association studies and family-based genome-wide linkage analyses to genome-wide association studies (GWAS). The first GWAS of asthma, reported in 2007, identified multiple markers on chromosome 17q21 as associates of the childhood-onset asthma. This remains the best replicated asthma locus to date. However, notwithstanding undeniable successes, genetic studies have produced relatively heterogeneous results with limited replication, and despite considerable promise, genetics of asthma and allergy has, so far, had limited impact on patient care, our understanding of disease mechanisms, and development of novel therapeutic targets. The paucity of precise replication in genetic studies of asthma is partly explained by the existence of numerous gene-environment interactions. Another important issue which is often overlooked is that of time of the assessment of the primary outcome(s) and the relevant environmental exposures. Most large GWASs use the broadest possible definition of asthma to increase the sample size, but the unwanted consequence of this is increased phenotypic heterogeneity, which dilutes effect sizes. One way of addressing this is to precisely define disease subtypes (e.g. by applying novel mathematical approaches to rich phenotypic data) and use these latent subtypes in genetic studies.
Identifiants
pubmed: 34085121
doi: 10.1007/164_2021_484
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
313-329Subventions
Organisme : Medical Research Council
ID : MR/S025340/1
Pays : United Kingdom
Informations de copyright
© 2021. Springer Nature Switzerland AG.
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