Jonas C Schupp1, Milica Vukmirovic, Naftali Kaminski, Antje Prasse. 1. aSection of Pulmonary, Critical Care and Sleep Medicine, Yale University School of Medicine, New Haven, Connecticut, USA bClinic for Pneumology, Hannover Medical School cFraunhofer Institute for Toxicology and Experimental Medicine (ITEM), Hannover and German Center for Lung Research, DZL BREATH, Hannover, Germany.
Abstract
PURPOSE OF REVIEW: Sarcoidosis is a systemic disease defined by the presence of nonnecrotizing granuloma in the absence of any known cause. Although the heterogeneity of sarcoidosis is well characterized clinically, the transcriptome of sarcoidosis and underlying molecular mechanisms are not. The signal of all transcripts, small and long noncoding RNAs, can be detected using microarrays or RNA-Sequencing. Analyzing the transcriptome of tissues that are directly affected by granulomas is of great importance to understand biology of the disease and may be predictive of disease and treatment outcome. RECENT FINDINGS: Multiple genome wide expression studies performed on sarcoidosis affected tissues were published in the last 11 years. Published studies focused on differences in gene expression between sarcoidosis vs. control tissues, stable vs. progressive sarcoidosis, as well as sarcoidosis vs. other diseases. Strikingly, all these transcriptomics data confirm the key role of TH1 immune response in sarcoidosis and particularly of interferon-γ (IFN-γ) and type I IFN-driven signaling pathways. SUMMARY: The steps toward transcriptomics of sarcoidosis in precision medicine highlight the potentials of this approach. Large prospective follow-up studies are required to identify signatures predictive of disease progression and outcome.
PURPOSE OF REVIEW: Sarcoidosis is a systemic disease defined by the presence of nonnecrotizing granuloma in the absence of any known cause. Although the heterogeneity of sarcoidosis is well characterized clinically, the transcriptome of sarcoidosis and underlying molecular mechanisms are not. The signal of all transcripts, small and long noncoding RNAs, can be detected using microarrays or RNA-Sequencing. Analyzing the transcriptome of tissues that are directly affected by granulomas is of great importance to understand biology of the disease and may be predictive of disease and treatment outcome. RECENT FINDINGS: Multiple genome wide expression studies performed on sarcoidosis affected tissues were published in the last 11 years. Published studies focused on differences in gene expression between sarcoidosis vs. control tissues, stable vs. progressive sarcoidosis, as well as sarcoidosis vs. other diseases. Strikingly, all these transcriptomics data confirm the key role of TH1 immune response in sarcoidosis and particularly of interferon-γ (IFN-γ) and type I IFN-driven signaling pathways. SUMMARY: The steps toward transcriptomics of sarcoidosis in precision medicine highlight the potentials of this approach. Large prospective follow-up studies are required to identify signatures predictive of disease progression and outcome.
Authors: Jeroen Maertzdorf; January Weiner; Hans-Joachim Mollenkopf; Torsten Bauer; Antje Prasse; Joachim Müller-Quernheim; Stefan H E Kaufmann Journal: Proc Natl Acad Sci U S A Date: 2012-04-30 Impact factor: 11.205
Authors: James T Rosenbaum; Sirichai Pasadhika; Elliott D Crouser; Dongseok Choi; Christina A Harrington; Jinnell A Lewis; Carrie R Austin; Tessa N Diebel; Emily E Vance; Rita M Braziel; Justine R Smith; Stephen R Planck Journal: Clin Immunol Date: 2009-05-22 Impact factor: 3.969
Authors: Chloe I Bloom; Christine M Graham; Matthew P R Berry; Fotini Rozakeas; Paul S Redford; Yuanyuan Wang; Zhaohui Xu; Katalin A Wilkinson; Robert J Wilkinson; Yvonne Kendrick; Gilles Devouassoux; Tristan Ferry; Makoto Miyara; Diane Bouvry; Dominique Valeyre; Valeyre Dominique; Guy Gorochov; Derek Blankenship; Mitra Saadatian; Phillip Vanhems; Huw Beynon; Rama Vancheeswaran; Melissa Wickremasinghe; Damien Chaussabel; Jacques Banchereau; Virginia Pascual; Ling-Pei Ho; Marc Lipman; Anne O'Garra Journal: PLoS One Date: 2013-08-05 Impact factor: 3.240
Authors: Sina A Gharib; Anagha Malur; Isham Huizar; Barbara P Barna; Mani S Kavuru; Lynn M Schnapp; Mary Jane Thomassen Journal: Respir Res Date: 2016-07-26
Authors: Swati Phalke; Katja Aviszus; Kira Rubtsova; Anatoly Rubtsov; Briana Barkes; Linda Powers; Brenda Warner; James L Crooks; John W Kappler; Evans R Fernández-Pérez; Lisa A Maier; Nabeel Hamzeh; Philippa Marrack Journal: Am J Respir Crit Care Med Date: 2020-10-01 Impact factor: 21.405
Authors: Nancy G Casanova; Manuel L Gonzalez-Garay; Belinda Sun; Christian Bime; Xiaoguang Sun; Kenneth S Knox; Elliott D Crouser; Nora Sammani; Taylor Gonzales; Bhupinder Natt; Sachin Chaudhary; Yves Lussier; Joe G N Garcia Journal: Respir Res Date: 2020-12-04
Authors: Maneesh Bhargava; K J Viken; B Barkes; T J Griffin; M Gillespie; P D Jagtap; R Sajulga; E J Peterson; H E Dincer; L Li; C I Restrepo; B P O'Connor; T E Fingerlin; D M Perlman; L A Maier Journal: Sci Rep Date: 2020-08-06 Impact factor: 4.379