title: Genetics of sarcoidosis.
abstract: Sarcoidosis is a multifactorial and polygenic disorder. Recently, several novel predisposing genes have been identified by genome-wide association studies, and fast progress in molecular technologies such as systematic and large-scale resequencing will aid the discovery of further risk loci and variants. In this article, the current knowledge of its genetics will be presented, including known and candidate risk variants and loci, with a focus on loci in the human leukocyte antigen region. Some of these factors are shared with other, clinically distinct diseases. This may lead to the development of new hypotheses on pathomechanisms, which associate sarcoidosis with other granulomatous disorders but also with diseases with significantly different phenotypes. In the near future system, biology approaches will help unravel the differing and common features of these disorders and allow the development of new therapeutic strategies and tools to predict the course and response to treatment of individual patients.
authors.affiliation: Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
authors.forename: Annegret
authors.initials: A
authors.lastname: Fischer
authors.affiliation: Respiratory Medicine Unit, Department of Medicine Solna, Center for Molecular Medicine (CMM), Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Johan
authors.initials: J
authors.lastname: Grunewald
authors.affiliation: Department of Medical and Surgical Sciences for Children and Adults, Center for Rare Lung Diseases, University of Modena and Reggio Emilia, Modena, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Spagnolo
authors.affiliation: Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
authors.forename: Almut
authors.initials: A
authors.lastname: Nebel
authors.affiliation: Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
authors.affiliation: Division of Pulmonary, Department of Medicine, University Medical Center, Freiburg, Germany.
authors.forename: Joachim
authors.initials: J
authors.lastname: Müller-Quernheim
mesh_terms: D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D012507:Sarcoidosis / Q000235:genetics* / Q000503:physiopathology
chemical_list: D006680:HLA Antigens