Genetics of Sarcoidosis - 15/08/11

Doi : 10.1016/j.ccm.2008.03.007

Joachim Müller-Quernheim, MD ^a,^⁎ , Manfred Schürmann, MD ^b, Sylvia Hofmann, PhD ^c, Karoline I. Gaede, PhD ^d, Annegret Fischer, MSc ^c, Antje Prasse, MD ^a, Gernot Zissel, PhD ^a, Stefan Schreiber, MD ^c,^e
^a Department of Pneumology, University Medical Center, Killianstraße 5, D 79106 Freiburg, Germany
^b Institute of Human Genetics, Medical University of Schleswig-Holstein, University of Lübeck, Ratzeburger Allee 160, D 23538 Lübeck, Germany
^c Institute of Clinical Molecular Biology, Christian-Albrechts-University, Schittenhelmstrasse 12, D 24105 Kiel, Germany
^d Department of Clinical Medicine, Research Center Borstel, Parkallee 35, D 23845 Borstel, Germany
^e Department of General Internal Medicine, Christian-Albrechts-University, Schittenhelmstrasse 12, Kiel, Germany

Corresponding author.

Abstract

Sarcoidosis 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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Plan

This work was supported by a Grant No. 01GS0426 of the National Genome Research Network Germany and Grant No. Mu 692/7-1 of the Deutsche Forschungsgemeinschaft, Bonn, Germany.