Genome-wide association study of image-based emphysema scoring in the Swedish CArdioPulmonary bioImage Study (SCAPIS) suggests two new risk loci in smokers.

doi:10.1186/s12931-026-03853-6

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Genome-wide association study of image-based emphysema scoring in the Swedish CArdioPulmonary bioImage Study (SCAPIS) suggests two new risk loci in smokers.

Respiratory research - 8 Aug 2026

Nyberg Fredrik, Lundmark Per, Blomberg Anders, Dekkers Koen, Egesten Arne, Eriksson Ström Jonas, Gigante Bruna, Gummesson Anders, Gunnarsson Cecilia, Janson Christer, Malinovschi Andrei, Olin Anna-Carin, Orho-Melander Marju, Persson Hans Lennart, Pesonen Ida, Sköld Magnus, Söderberg Stefan, Tanash Hanan, Vanfleteren Lowie E G W, Fall Tove

Abstract excerpt

BACKGROUND: Despite the high prevalence and clinical significance of emphysema, few genetic risk loci have been consistently replicated. We conducted a genome-wide association study (GWAS) of CT-based emphysema, with a particular focus on non-smoking-related genetic determinants. METHODS: We analyzed 25,639 individuals of European ancestry from the SCAPIS national cohort, aged 50-65 years, of which 51% were...

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Identifiers

PMID: 42634071
DOI: 10.1186/s12931-026-03853-6
PMCID: PMC13501701

Genes

CHRNA5
DYSF
EFEMP1
PNPT1

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