Transcriptional Profiling of Normal, Stenotic, and Regurgitant Human Aortic Valves.

Genes
Christina L GreeneY Joseph Woo

Abstract

The genetic mechanisms underlying aortic stenosis (AS) and aortic insufficiency (AI) disease progression remain unclear. We hypothesized that normal aortic valves and those with AS or AI all exhibit unique transcriptional profiles. Normal control (NC) aortic valves were collected from non-matched donor hearts that were otherwise acceptable for transplantation (n = 5). Valves with AS or AI (n = 5, each) were collected from patients undergoing surgical aortic valve replacement. High-throughput sequencing of total RNA revealed 6438 differentially expressed genes (DEGs) for AS vs. NC, 4994 DEGs for AI vs. NC, and 2771 DEGs for AS vs. AI. Among 21 DEGs of interest, APCDD1L, CDH6, COL10A1, HBB, IBSP, KRT14, PLEKHS1, PRSS35, and TDO2 were upregulated in both AS and AI compared to NC, whereas ALDH1L1, EPHB1, GPX3, HIF3A, and KCNT1 were downregulated in both AS and AI (p < 0.05). COL11A1, H19, HIF1A, KCNJ6, PRND, and SPP1 were upregulated only in AS, and NPY was downregulated only in AS (p < 0.05). The functional network for AS clustered around ion regulation, immune regulation, and lipid homeostasis, and that for AI clustered around ERK1/2 regulation. Overall, we report transcriptional profiling data for normal human aortic valves from...Continue Reading

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Citations

Feb 11, 2021·International Journal of Endocrinology·Zhenqin CaiYan Ling
Apr 4, 2021·Genes·Andreas BrodehlBrenda Gerull
Jun 29, 2021·Frontiers in Cardiovascular Medicine·Ishita TandonKartik Balachandran
Jul 29, 2021·JTCVS Techniques·Yuanjia Zhu, Y Joseph Woo
Sep 26, 2021·Journal of Cellular and Molecular Medicine·Ileana ManduteanuMaya Simionescu
Nov 11, 2021·Journal of Cellular and Molecular Medicine·Rong-Hua YangSi-Tong Zhou

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Datasets Mentioned

BETA
GSE153555

Methods Mentioned

BETA
Assay

Software Mentioned

ClueGo
Bowtie
Cytoscape
GraphPad Prism
DESeq2
GOseq R package
GraphPad
DESeq2 R package
BLAST
topGO

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