Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation

Elmo C. Saarentaus, Juha Karjalainen, Joel T. Rämö, Tuomo Kiiskinen, Aki S. Havulinna, Juha Mehtonen, Heidi Hautakangas, Sanni Ruotsalainen, Max Tamlander, Nina Mars, Sanna Toppila-Salmi, Matti Pirinen, Mitja Kurki, Samuli Ripatti, Mark Daly, Tuula Palotie, Antti Mäkitie and Aarno Palotie ()
Additional contact information
Elmo C. Saarentaus: University of Helsinki
Juha Karjalainen: University of Helsinki
Joel T. Rämö: University of Helsinki
Tuomo Kiiskinen: University of Helsinki
Aki S. Havulinna: University of Helsinki
Juha Mehtonen: University of Helsinki
Heidi Hautakangas: University of Helsinki
Sanni Ruotsalainen: University of Helsinki
Max Tamlander: University of Helsinki
Nina Mars: University of Helsinki
Sanna Toppila-Salmi: Helsinki University Hospital and University of Helsinki
Matti Pirinen: University of Helsinki
Mitja Kurki: University of Helsinki
Samuli Ripatti: University of Helsinki
Mark Daly: University of Helsinki
Tuula Palotie: University of Helsinki
Antti Mäkitie: University of Helsinki and Helsinki University Hospital
Aarno Palotie: University of Helsinki

Nature Communications, 2023, vol. 14, issue 1, 1-15

Abstract: Abstract Inflammatory and infectious upper respiratory diseases (ICD-10: J30-J39), such as diseases of the sinonasal tract, pharynx and larynx, are growing health problems yet their genomic similarity is not known. We analyze genome-wide association to eight upper respiratory diseases (61,195 cases) among 260,405 FinnGen participants, meta-analyzing diseases in four groups based on an underlying genetic correlation structure. Aiming to understand which genetic loci contribute to susceptibility to upper respiratory diseases in general and its subtypes, we detect 41 independent genome-wide significant loci, distinguishing impact on sinonasal or pharyngeal diseases, or both. Fine-mapping implicated non-synonymous variants in nine genes, including three linked to immune-related diseases. Phenome-wide analysis implicated asthma and atopic dermatitis at sinonasal disease loci, and inflammatory bowel diseases and other immune-mediated disorders at pharyngeal disease loci. Upper respiratory diseases also genetically correlated with autoimmune diseases such as rheumatoid arthritis, autoimmune hypothyroidism, and psoriasis. Finally, we associated separate gene pathways in sinonasal and pharyngeal diseases that both contribute to type 2 immunological reaction. We show shared heritability among upper respiratory diseases that extends to several immune-mediated diseases with diverse mechanisms, such as type 2 high inflammation.

Date: 2023
References: View references in EconPapers View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/s41467-022-33626-w Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-022-33626-w

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-022-33626-w

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().