Open AccessExpression Profiling Elucidates a Molecular Gene Signature for Pulmonary Hypertension in Sarcoidosis
Author(s) -
Singla Sunit,
Zhou Tong,
Javaid Kamran,
Abbasi Taimur,
Casanova Nancy,
Zhang Wei,
Ma ShwuFan,
Wade Michael S.,
Noth Imre,
Sweiss Nadera J.,
Garcia Joe G. N.,
Machado Roberto F.
Publication year - 2016
Publication title -
pulmonary circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.791
H-Index - 40
ISSN - 2045-8940
DOI - 10.1086/688316
Subject(s) - medicine , pulmonary hypertension , sarcoidosis , gene expression profiling , gene expression , profiling (computer programming) , gene , pathology , computational biology , genetics , biology , computer science , operating system
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.