{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T00:18:17Z","timestamp":1767658697066,"version":"3.48.0"},"reference-count":134,"publisher":"Georg Thieme Verlag KG","issue":"06","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Semin Respir Crit Care Med"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Sarcoidosis is a complex, immune-mediated disease characterized by a broad spectrum of clinical and molecular phenotypes\u2014often referred to as endophenotypes\u2014some of which progress to chronic outcomes such as pulmonary fibrosis. Despite decades of research, the pathogenesis of sarcoidosis remains incompletely understood, primarily due to its clinical heterogeneity and the absence of robust preclinical models. Established risk factors include age, sex, ethnicity, geographic origin, and environmental exposures, all of which contribute to granuloma formation and the activation of profibrotic pathways. These inflammatory cascades promote fibroblast proliferation and aberrant tissue remodeling, ultimately leading to interstitial lung pathology and fibrosis. A central feature of sarcoidosis is the dysregulation of immune regulatory mechanisms, likely driven by genetic susceptibility and immune dysfunction. Understanding the genetic architecture of sarcoidosis is crucial for identifying the molecular drivers of the disease, discovering biomarkers for early diagnosis and prognosis, and developing targeted therapies. This review synthesizes current knowledge on the genetic and genomic landscape of sarcoidosis, highlighting key loci and biological pathways implicated in disease susceptibility and progression.<\/jats:p>","DOI":"10.1055\/a-2741-2120","type":"journal-article","created":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T00:10:46Z","timestamp":1764029446000},"page":"608-621","source":"Crossref","is-referenced-by-count":0,"title":["Genetics in Sarcoidosis and Its Burden as a Multisystem Disease"],"prefix":"10.1055","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1298-1243","authenticated-orcid":false,"given":"Natalia V.","family":"Rivera","sequence":"additional","affiliation":[{"name":"Division of Immunology and Respiratory Medicine, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Solna, and Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anders","family":"Eklund","sequence":"additional","affiliation":[{"name":"Division of Immunology and Respiratory Medicine, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Solna, and Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2025,11,24]]},"reference":[{"issue":"169","key":"ref1","doi-asserted-by":"crossref","first-page":"230085","DOI":"10.1183\/16000617.0085-2023","article-title":"Sarcoidosis-associated pulmonary fibrosis: joining the dots","volume":"32","author":"D Bandyopadhyay","year":"2023","journal-title":"Eur Respir Rev"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1111\/joim.13629","article-title":"Sarcoidosis: epidemiology and clinical insights","volume":"293","author":"M Rossides","year":"2023","journal-title":"J Intern Med"},{"issue":"01","key":"ref3","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1513\/AnnalsATS.202204-328OC","article-title":"Heterogeneity of lung function phenotypes in sarcoidosis: role of race and sex differences","volume":"20","author":"M Sharp","year":"2023","journal-title":"Ann Am Thorac Soc"},{"issue":"S 06","key":"ref4","doi-asserted-by":"crossref","first-page":"S429","DOI":"10.1513\/AnnalsATS.201707-565OT","article-title":"Genetic, Immunologic, and Environmental Basis of Sarcoidosis","volume":"14","author":"D R Moller","year":"2017","journal-title":"Ann Am Thorac Soc"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"1132799","DOI":"10.3389\/fmed.2023.1132799","article-title":"Sex differences in the genetics of sarcoidosis across European and African ancestry populations","volume":"10","author":"Y Xiong","year":"2023","journal-title":"Front Med (Lausanne)"},{"issue":"03","key":"ref6","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1111\/cei.12942","article-title":"Sarcoidosis extent relates to molecular variability","volume":"188","author":"C S Monast","year":"2017","journal-title":"Clin Exp Immunol"},{"volume-title":"Clinical Manifestations of Sarcoidosis","year":"2023","author":"L Peixoto","key":"ref7"},{"issue":"04","key":"ref8","doi-asserted-by":"crossref","first-page":"100137","DOI":"10.1016\/j.opresp.2021.100137","article-title":"Sarcoidosis Phenotypes","volume":"3","author":"J Francesqui","year":"2021","journal-title":"Open Respir Arch"},{"issue":"08","key":"ref9","doi-asserted-by":"crossref","first-page":"e26","DOI":"10.1164\/rccm.202002-0251ST","article-title":"Diagnosis and detection of sarcoidosis. 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