{"entity": "publication", "iuid": "3d953d9c3cf543daa8ea28a3c10822ec", "timestamp": "2026-09-06T20:45:17.414Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3d953d9c3cf543daa8ea28a3c10822ec.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3d953d9c3cf543daa8ea28a3c10822ec"}}, "title": "High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.", "authors": [{"family": "Rivera", "given": "Natalia V", "initials": "NV"}, {"family": "Ronninger", "given": "Marcus", "initials": "M"}, {"family": "Shchetynsky", "given": "Klementy", "initials": "K"}, {"family": "Franke", "given": "Andre", "initials": "A"}, {"family": "N\u00f6then", "given": "Markus M", "initials": "MM"}, {"family": "M\u00fcller-Quernheim", "given": "Joachim", "initials": "J"}, {"family": "Schreiber", "given": "Stefan", "initials": "S"}, {"family": "Adrianto", "given": "Indra", "initials": "I"}, {"family": "Karakaya", "given": "Bekir", "initials": "B"}, {"family": "van Moorsel", "given": "Coline H M", "initials": "CH"}, {"family": "Navratilova", "given": "Zdenka", "initials": "Z"}, {"family": "Kolek", "given": "Vitezslav", "initials": "V"}, {"family": "Rybicki", "given": "Benjamin A", "initials": "BA"}, {"family": "Iannuzzi", "given": "Michael C", "initials": "MC"}, {"family": "Petrek", "given": "Martin", "initials": "M"}, {"family": "Grutters", "given": "Jan C", "initials": "JC"}, {"family": "Montgomery", "given": "Courtney", "initials": "C"}, {"family": "Fischer", "given": "Annegret", "initials": "A"}, {"family": "Eklund", "given": "Anders", "initials": "A"}, {"family": "Padyukov", "given": "Leonid", "initials": "L"}, {"family": "Grunewald", "given": "Johan", "initials": "J"}], "type": "journal article", "published": "2016-05-01", "journal": {"volume": "193", "issn": "1535-4970", "issue": "9", "pages": "1008-1022", "title": "Am. J. Respir. Crit. Care Med.", "issn-l": "1073-449X"}, "abstract": "Sarcoidosis is a multisystem disease of unknown cause. L\u00f6fgren's syndrome (LS) is a characteristic subgroup of sarcoidosis that is associated with a good prognosis in sarcoidosis. However, little is known about its genetic architecture or its broader phenotype, non-LS sarcoidosis.\n\nTo address the genetic architecture of sarcoidosis phenotypes, LS and non-LS.\n\nAn association study in a white Swedish cohort of 384 LS, 664 non-LS, and 2,086 control subjects, totaling 3,134 subjects using a fine-mapping genotyping platform was conducted. Replication was performed in four independent cohorts, three of white European descent (Germany, n\u2009=\u20094,975; the Netherlands, n\u2009=\u2009613; and Czech Republic, n\u2009=\u2009521), and one of black African descent (United States, n\u2009=\u20091,657), totaling 7,766 subjects.\n\nA total of 727 LS-associated variants expanding throughout the extended major histocompatibility complex (MHC) region and 68 non-LS-associated variants located in the MHC class II region were identified and confirmed. A shared overlap between LS and non-LS defined by 17 variants located in the MHC class II region was found. Outside the MHC region, two LS-associated loci, in ADCY3 and between CSMD1 and MCPH1, were observed and replicated.\n\nComprehensive and integrative analyses of genetics, transcription, and pathway modeling on LS and non-LS indicates that these sarcoidosis phenotypes have different genetic susceptibility, genomic distributions, and cellular activities, suggesting distinct molecular mechanisms in pathways related to immune response with a common region.", "doi": "10.1164/rccm.201507-1372OC", "pmid": "26651848", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC4872654"}], "notes": [], "created": "2017-05-03T13:00:19.735Z", "modified": "2024-01-16T13:48:50.129Z"}