• Clinics in chest medicine · Sep 2008

    Review

    Genetics of sarcoidosis.

    • Joachim Müller-Quernheim, Manfred Schürmann, Sylvia Hofmann, Karoline I Gaede, Annegret Fischer, Antje Prasse, Gernot Zissel, and Stefan Schreiber.
    • Department of Pneumology, University Medical Center, Killianstrasse 5, Freiburg, Germany. jmq@medizin.ukl.uni-freiburg.de
    • Clin. Chest Med. 2008 Sep 1;29(3):391-414, viii.

    AbstractSarcoidosis is a multigenic and multifactorial disease. Predisposing genes have been identified and fast progress in molecular technologies including systematic genome-wide association studies and large-scale resequencing will aid the discovery of further risk loci and variants. The exploration of the molecular epidemiology of genetic variants in the pathogenesis of sarcoidosis will allow an assessment of their prognostic usefulness. To this end, different granulomatous disorders of known and unknown etiology should be investigated jointly by genetic, immunobiological, and proteomic approaches. The definition of individual genetic risk profiles in sarcoidosis and other chronic inflammatory disorders seems achievable and a useful route for clinical translation.

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