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Semin Respir Crit Care Med 2014; 35(03): 296-306
DOI: 10.1055/s-0034-1376860
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Genetics of Sarcoidosis

Annegret Fischer
1   Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany
,
Johan Grunewald
2   Respiratory Medicine Unit, Department of Medicine Solna, Center for Molecular Medicine (CMM), Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
,
Paolo Spagnolo
3   Department of Medical and Surgical Sciences for Children and Adults, Center for Rare Lung Diseases, University of Modena and Reggio Emilia, Modena, Italy
,
Almut Nebel
1   Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany
,
Stefan Schreiber
1   Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany
4   Clinic of Internal Medicine I, University Hospital Schleswig-Holstein, Kiel, Germany
,
Joachim Müller-Quernheim
5   Division of Pulmonary, Department of Medicine, University Medical Center, Freiburg, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
09 July 2014 (online)

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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.

Keywords

sarcoidosis - genetics - genome-wide association study - HLA
 

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