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Updated: Oct 29, 2026

Assessing Cardiomyocyte Subtypes Following Transcription Factor-mediated Reprogramming of Mouse Embryonic Fibroblasts
Published on: March 22, 2017
Transcriptomics Identifies a Small Set of Circulating Biomarkers and Signaling Pathways Dysregulated in Hypertrophic
Yuko Kiyohara1, Keitaro Akita1, Michael A Fifer2
1Division of Cardiology, Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA.
Background:
It is sometimes challenging to distinguish hypertrophic cardiomyopathy (HCM) from other cardiomyopathies with left ventricular hypertrophy (LVH). At present, no circulating biomarkers to distinguish HCM have been established.
Objectives:
The authors aimed to identify plasma microRNA (miRNA) biomarkers unique to HCM.
Methods:
In this multicenter case-control study, the authors performed comprehensive plasma transcriptomics profiling in cases with HCM and controls with hypertensive LVH, transthyretin amyloid cardiomyopathy (ATTR-CM), and aortic stenosis (AS). For each disease group, they chronologically split the patients into training and test sets. The authors identified miRNAs that were significantly (Benjamini-Hochberg-adjusted P < 0.05) upregulated or downregulated in HCM compared with hypertensive LVH. They made the same comparisons between HCM and ATTR-CM and between HCM and AS. They determined miRNAs that were consistently upregulated or downregulated in HCM throughout all 3 comparisons. Then, they selected miRNAs independently associated with HCM after adjusting for potential confounders. Using the selected miRNAs, the authors developed a logistic regression model to distinguish HCM in the training set. They calculated the area under the receiver-operating characteristic curve in the test set.
Results:
The authors analyzed 2,656 miRNAs in patients with HCM (n = 294), hypertensive LVH (n = 321), ATTR-CM (n = 167), and AS (n = 38). They identified 3 miRNAs (miR-454-3p, miR-98-5p, and miR-5581-3p). The logistic regression model using the 3 miRNAs had an area under the receiver-operating characteristic curve of 0.95 (95% CI: 0.93-0.97) with a sensitivity of 0.95 and a specificity of 0.90 in the test set.
Conclusions:
Comprehensive plasma transcriptomics profiling identified a small set of circulating miRNAs to distinguish HCM from other cardiomyopathies with LVH.
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