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Genetics of sarcoidosis
Annegret Fischer1, Johan Grunewald2, Paolo Spagnolo3
1Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Seminars in Respiratory and Critical Care Medicine
|July 10, 2014
Summary
Genetic factors significantly influence sarcoidosis, a complex polygenic disorder. Ongoing research using advanced molecular techniques aims to identify more risk genes and develop personalized treatments.
Area of Science:
- Genetics
- Immunology
- Systems Biology
Background:
- Sarcoidosis is a complex, multifactorial, and polygenic inflammatory disease.
- Recent genome-wide association studies have identified novel predisposing genes for sarcoidosis.
- Advances in molecular technologies facilitate the discovery of additional risk loci and variants.
Purpose of the Study:
- To present current knowledge on sarcoidosis genetics, including known and candidate risk variants and loci.
- To highlight the role of the human leukocyte antigen region in sarcoidosis predisposition.
- To explore shared genetic factors with other diseases and their implications for pathomechanisms.
Main Methods:
- Review of current literature on sarcoidosis genetics.
- Analysis of genome-wide association study findings.
- Focus on human leukocyte antigen (HLA) region genetics.
Main Results:
- Several novel sarcoidosis predisposing genes have been identified.
- Specific risk loci and variants are associated with sarcoidosis.
- Shared genetic factors link sarcoidosis with other granulomatous and distinct diseases.
Conclusions:
- Understanding shared genetic factors can generate new hypotheses on sarcoidosis pathomechanisms.
- Systems biology approaches will elucidate common and distinct features of related disorders.
- Future research will enable the development of novel therapeutic strategies and predictive tools for sarcoidosis.
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