ArticleScientific reports2022
A whole genome sequencing study of moderate to severe asthma identifies a lung function locus associated with asthma risk.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 16 citations in OpenAlex.
- Genome-wide association study of asthma with high treatment burden and/or worse outcomes defined using electronic healthcare data in UK Biobank.ERJ open research · 2026Article
- Cumulative genetic risk for asthma contributes to disease severity in children with asthma.The journal of allergy and clinical immunology. Global · 2026Article
- SPAmix: a scalable, accurate, and universal analysis framework for large-scale genetic association studies in admixed populations.Genome biology · 2025Article
- Cumulative Genetic Risk for Asthma Contributes to Disease Severity in Children with Asthma living in Urban Environments.medRxiv : the preprint server for health sciences · 2025Article
- Integration of biobank-scale genetics and plasma proteomics reveals evidence for causal processes in asthma risk and heterogeneity.Cell genomics · 2025Article
- Role of the TGF-β cytokine and its gene polymorphisms in asthma etiopathogenesis.Frontiers in allergy · 2025Review
- SLC16A8 is a causal contributor to age-related macular degeneration risk.NPJ genomic medicine · 2024Article
- Genetics of chronic respiratory disease.Nature reviews. Genetics · 2024Review
- Gene-based association study of rare variants in children of diverse ancestries implicates TNFRSF21 in the development of allergic asthma.The Journal of allergy and clinical immunology · 2024Article
- Common Pathogeneses Underlying Asthma and Chronic Obstructive Pulmonary Disease -Insights from Genetic Studies.International journal of chronic obstructive pulmonary disease · 2024Review
- Revealing polygenic pleiotropy using genetic risk scores for asthma.HGG advances · 2023Article
- Genomics of Treatable Traits in Asthma.Genes · 2023Review
- Effect of Obesity on the Expression of Genes Associated with Severe Asthma-A Pilot Study.Journal of clinical medicine · 2023Article
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Authors and funding
24 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies (GWAS) have identified many common variant loci associated with asthma susceptibility, but few studies investigate the genetics underlying moderate-to-severe asthma risk. Here, we present a whole-genome sequencing study comparing 3181 moderate-to-severe asthma patients to 3590 non-asthma controls. We demonstrate that asthma risk is genetically correlated with lung function measures and that this component of asthma risk is orthogonal to the eosinophil genetics that also contribute to disease susceptibility. We find that polygenic scores for reduced lung function are associated with younger asthma age of onset. Genome-wide, seven previously reported common asthma variant loci and one previously reported lung function locus, near THSD4, reach significance. We replicate association of the lung function locus in a recently published GWAS of moderate-to-severe asthma patients. We additionally replicate the association of a previously reported rare (minor allele frequency < 1%) coding variant in IL33 and show significant enrichment of rare variant burden in genes from common variant allergic disease loci. Our findings highlight the contribution of lung function genetics to moderate-to-severe asthma risk, and provide initial rare variant support for associations with moderate-to-severe asthma risk at several candidate genes from common variant loci.
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