Publications by authors named "Clara I Restrepo"
Background: Sarcoidosis is a heterogeneous granulomatous disease with no accurate biomarkers of disease progression. Therefore, we profiled and integrated the DNA methylome, mRNAs, and microRNAs to identify molecular changes associated with sarcoidosis and disease progression that might illuminate underlying mechanisms of disease and potential biomarkers.
Methods: Bronchoalveolar lavage cells from 64 sarcoidosis subjects and 16 healthy controls were used.
Article Synopsis
- - The study focuses on sarcoidosis, a complex disease that lacks clear diagnostic markers, through the analysis of DNA methylation, mRNA, and microRNA to uncover molecular changes related to the disease and its progression.
- - Researchers analyzed bronchoalveolar lavage cells from 64 sarcoidosis patients and 16 healthy individuals, using advanced genomic techniques to identify key changes, including 46,812 CpGs, 1,842 mRNAs, and several miRNAs linked to the disease.
- - The findings highlighted the importance of the PI3K/AKT1 signaling pathway and discovered potential biomarkers that could aid in diagnosing and understanding sarcoidosis, paving the way for future research to verify these results.
Background: Most phenotyping paradigms in sarcoidosis are based on expert opinion; however, no paradigm has been widely adopted because of the subjectivity in classification. We hypothesized that cluster analysis could be performed on common clinical variables to define more objective sarcoidosis phenotypes.
Methods: We performed a retrospective cohort study of 554 sarcoidosis cases to identify distinct phenotypes of sarcoidosis based on 29 clinical features.
Background Previous gene expression studies have identified genes IFNγ, TNFα, RNase 3, CXCL9, and CD55 as potential biomarkers for sarcoidosis and/or chronic beryllium disease (CBD). We hypothesized that differential expression of these genes could function as diagnostic biomarkers for sarcoidosis and CBD, and prognostic biomarkers for sarcoidosis. Study Design/Methods We performed RT-qPCR on whole blood samples from CBD (n = 132), beryllium sensitized (BeS) (n = 109), and sarcoidosis (n = 99) cases and non-diseased controls (n = 97) to determine differential expression of target genes.
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