title: Expression profiling elucidates a molecular gene signature for pulmonary hypertension in sarcoidosis.
abstract: Pulmonary hypertension (PH), when it complicates sarcoidosis, carries a poor prognosis, in part because it is difficult to detect early in patients with worsening respiratory symptoms. Pathogenesis of sarcoidosis occurs via incompletely characterized mechanisms that are distinct from the mechanisms of pulmonary vascular remodeling well known to occur in conjunction with other chronic lung diseases. To address the need for a biomarker to aid in early detection as well as the gap in knowledge regarding the mechanisms of PH in sarcoidosis, we used genome-wide peripheral blood gene expression analysis and identified an 18-gene signature capable of distinguishing sarcoidosis patients with PH (n= 8), sarcoidosis patients without PH (n= 17), and healthy controls (n= 45). The discriminative accuracy of this 18-gene signature was 100% in separating sarcoidosis patients with PH from those without it. If validated in a large replicate cohort, this signature could potentially be used as a diagnostic molecular biomarker for sarcoidosis-associated PH.
authors.affiliation: Division of Pulmonary, Critical Care, Sleep and Allergy, Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA; These authors contributed equally.
authors.forename: Sunit
authors.initials: S
authors.lastname: Singla
authors.affiliation: Department of Physiology and Cell Biology, University of Nevada School of Medicine, Reno, Nevada, USA; These authors contributed equally.
authors.forename: Tong
authors.initials: T
authors.lastname: Zhou
authors.affiliation: Division of Pulmonary, Critical Care, Sleep and Allergy, Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA; These authors contributed equally.
authors.forename: Kamran
authors.initials: K
authors.lastname: Javaid
authors.affiliation: Division of Pulmonary, Critical Care, Sleep and Allergy, Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.
authors.forename: Taimur
authors.initials: T
authors.lastname: Abbasi
authors.affiliation: Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, Department of Medicine, University of Arizona Health Sciences, Tucson, Arizona, USA.
authors.forename: Nancy
authors.initials: N
authors.lastname: Casanova
authors.affiliation: Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Section of Pulmonary/Critical Care, Department of Medicine, University of Chicago, Chicago, Illinois, USA.
authors.forename: Shwu-Fan
authors.initials: SF
authors.lastname: Ma
authors.affiliation: Division of Pulmonary, Critical Care, Sleep and Allergy, Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.
authors.forename: Michael S
authors.initials: MS
authors.lastname: Wade
authors.affiliation: Section of Pulmonary/Critical Care, Department of Medicine, University of Chicago, Chicago, Illinois, USA.
authors.forename: Imre
authors.initials: I
authors.lastname: Noth
authors.affiliation: Section of Rheumatology, Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.
authors.forename: Nadera J
authors.initials: NJ
authors.lastname: Sweiss
authors.affiliation: Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, Department of Medicine, University of Arizona Health Sciences, Tucson, Arizona, USA.
authors.forename: Joe G N
authors.initials: JG
authors.lastname: Garcia
authors.affiliation: Division of Pulmonary, Critical Care, Sleep and Allergy, Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.
authors.forename: Roberto F
authors.initials: RF
authors.lastname: Machado
keywords: gene signature; peripheral blood mononuclear cells; pulmonary hypertension; sarcoidosis