{"entity": "publication", "iuid": "dd886721ab0f47a7b208bcba35778885", "timestamp": "2026-09-08T10:23:39.412Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/dd886721ab0f47a7b208bcba35778885.json"}, "display": {"href": "https://publications.scilifelab.se/publication/dd886721ab0f47a7b208bcba35778885"}}, "title": "Genome-wide association study of image-based emphysema scoring in the Swedish CArdioPulmonary bioImage Study (SCAPIS) suggests two new risk loci in smokers.", "authors": [{"family": "Nyberg", "given": "Fredrik", "initials": "F", "orcid": "0000-0003-0892-5668", "researcher": {"href": "https://publications.scilifelab.se/researcher/6a30bf7492d546ebab80c2de33747992.json"}}, {"family": "Lundmark", "given": "Per", "initials": "P"}, {"family": "Blomberg", "given": "Anders", "initials": "A"}, {"family": "Dekkers", "given": "Koen", "initials": "K"}, {"family": "Egesten", "given": "Arne", "initials": "A"}, {"family": "Eriksson Str\u00f6m", "given": "Jonas", "initials": "J"}, {"family": "Gigante", "given": "Bruna", "initials": "B"}, {"family": "Gummesson", "given": "Anders", "initials": "A"}, {"family": "Gunnarsson", "given": "Cecilia", "initials": "C"}, {"family": "Janson", "given": "Christer", "initials": "C"}, {"family": "Malinovschi", "given": "Andrei", "initials": "A"}, {"family": "Olin", "given": "Anna-Carin", "initials": "AC"}, {"family": "Orho-Melander", "given": "Marju", "initials": "M"}, {"family": "Persson", "given": "Hans Lennart", "initials": "HL"}, {"family": "Pesonen", "given": "Ida", "initials": "I"}, {"family": "Sk\u00f6ld", "given": "Magnus", "initials": "M"}, {"family": "S\u00f6derberg", "given": "Stefan", "initials": "S"}, {"family": "Tanash", "given": "Hanan", "initials": "H"}, {"family": "Vanfleteren", "given": "Lowie E G W", "initials": "LEGW"}, {"family": "Fall", "given": "Tove", "initials": "T"}], "type": "journal article", "published": "2026-08-08", "journal": {"title": "Respir. Res.", "issn": "1465-993X", "volume": "27", "issue": "1", "issn-l": "1465-9921"}, "abstract": "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.\n\nWe analyzed 25,639 individuals of European ancestry from the SCAPIS national cohort, aged 50-65 years, of which 51% were never-smokers. Emphysema was assessed through semi-quantitative visual scoring of CT scans. GWAS was performed in the whole sample and stratified on smoking status. We also examined the association of previously reported emphysema- and lung function-related variants with emphysema in our dataset.\n\nEmphysema criteria were fulfilled for 1,479 participants (5.6%), with higher prevalence among current (N = 576, 18.2%) and former smokers (N = 612, 6.5%) compared to never-smokers (N = 263, 2.0%). We identified three independent genetic loci for emphysema in smokers and no signals in never-smokers. The strongest signal was observed in the well-established nicotinic acetylcholine receptor cluster (CHRNA5-A3-B4) locus on chromosome 15. Additionally, we discovered novel associations near the dysferlin (DYSF) gene on chromosome 2 and in an intergenic region on chromosome 3. By assessing previously lung phenotype-associated variants we also found evidence supporting association with emphysema in smokers for variants in the EFEMP1/MIR217HG/PNPT1 locus on chromosome 2, previously linked to reduced FEV1/FVC ratio.\n\nThis study, based on the largest unselected population sample to date, provides novel insights into the genetic architecture of emphysema. However, no signals were detected in never-smokers despite the large sample-size, likely due to the low prevalence of emphysema in that group. The proposed genetic risk loci require external replication.", "doi": "10.1186/s12931-026-03853-6", "pmid": "42634071", "labels": {"NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC13501701"}, {"db": "pii", "key": "10.1186/s12931-026-03853-6"}], "notes": [], "created": "2026-09-08T08:59:00.050Z", "modified": "2026-09-08T08:59:00.126Z"}