131 genetic loci highlight immunological pathways and tissues in nasal polyposis and asthma

Elmo C. Saarentaus (), Kasper Fischer-Rasmussen, Eeva Sliz, Argyro Bizaki-Vallaskangas, Tarja Laitinen, Sanna Toppila-Salmi, Hannu Kankaanranta, Johannes Kettunen, Klaus Bønnelykke, Aarno Palotie and Antti Mäkitie
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Elmo C. Saarentaus: University of Helsinki and Helsinki University Hospital
Kasper Fischer-Rasmussen: Copenhagen University Hospital – Herlev and Gentofte
Eeva Sliz: Faculty of Medicine
Argyro Bizaki-Vallaskangas: University of Tampere
Tarja Laitinen: University of Helsinki
Sanna Toppila-Salmi: University of Eastern Finland, Joensuu and Kuopio
Hannu Kankaanranta: University of Gothenburg
Johannes Kettunen: Faculty of Medicine
Klaus Bønnelykke: Copenhagen University Hospital – Herlev and Gentofte
Aarno Palotie: University of Helsinki
Antti Mäkitie: University of Helsinki and Helsinki University Hospital

Nature Communications, 2025, vol. 16, issue 1, 1-14

Abstract: Abstract The coexistence of asthma and chronic rhinosinusitis with nasal polyposis (CRSwNP) is associated with allergic phenotypes, disease severity and failure of first-line treatment for both asthma and CRSwNP. Recent studies have highlighted shared genetic components for these diseases. To better understand this shared component, we perform genome-wide meta-analyses of asthma (n = 71,481), CRSwNP (n = 9626) and chronic rhinosinusitis without nasal polyposis (CRSsNP, n = 15,448) in FinnGen and UKB (685,602 controls). We detect 131 genomic associations, including 17 novel loci for asthma, 33 novel loci for CRSwNP, and one for CRSsNP. A shared impact on asthma and CRSwNP is observed at 71 loci. A cross-trait meta-analysis using all disorders further implicates 17 loci associated with asthma or asthma and CRSwNP. We also find 17 nonsynonymous associating variants, including a novel TP63 missense variant association with CRSwNP (OR = 1.519 [1.331–1.734]). Gene set analyses confirm enrichment of genes involved with type 2 inflammation, Jak-STAT signaling, and FOXP3 signaling. Our results highlight new shared and separate genetic pathways for CRSwNP and asthma. These provide several avenues of further investigation in functional and epidemiological follow-up, and evidence for immunological and non-immunological mechanisms behind both diseases.

Date: 2025
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DOI: 10.1038/s41467-025-64847-4

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