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Regulatory Elements Harboring Common Coronary Artery Disease Risk Variants Control Endothelial TSPAN14 Expression and NOTCH1 Signaling

GSE318807 Homo sapiens (human) RNA-seq (gene expression) 12 samples Submitted 2026/05/15 Platform GPL18573
At a glance

RNA-seq (gene expression) · human · 12 samples

What it is
RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism
Homo sapiens (human)
Samples
12 samples
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper
Common Coronary Artery Disease Risk Variants in Endothelial Regulatory Elements Modulate Tetraspanin 14 Expression and Notch SignalingArteriosclerosis, thrombosis, and vascular biology · 2026
Summary (written by the submitters)
Background: Coronary artery disease (CAD) is a genetically complex condition and remains the leading cause of mortality worldwide. Genome-wide association studies (GWAS) have identified a CAD risk locus on chromosome 10q23 that is independent of traditional risk factors, providing an opportunity to uncover novel molecular mechanisms contributing to CAD pathogenesis.
Read the full summary ↓
Methods: Improved fine-mapping approaches were used to prioritize noncoding variants at the 10q23 locus within the intronic region of Tetraspanin 14 (TSPAN14). Regulatory elements harboring lead variants were functionally interrogated using chromatin accessibility and CRISPR-mediated deletion approaches in endothelial cells (ECs). Subsequently, TSPAN14 function in ECs was assessed using transcriptomic profiling, Notch signaling activation assays, and EC functional assay using gene knockout (KO) cell lines. Results: Fine-mapping identified two lead variants, rs17680741 and rs12260962, located within regulatory elements predicted to affect TSPAN14 expression in monocytes and ECs, respectively. Chromatin accessibility and enhancer deletion assays demonstrated EC-specific function for rs12260962-harboring regulatory element in TSPAN14 expression regulation. Loss of TSPAN14 resulted in significant transcriptomic changes related to Notch signaling, heart morphogenesis, cell adhesion, and wound healing. Functionally, TSPAN14 KO ECs exhibited impaired cell-cell junction integrity, reduced repair capacity, and diminished mechanosensitive responses. Conclusions: Together, these data identify a regulatory element harboring CAD-associated variants at the 10q23 locus that modulates TSPAN14 expression and downstream Notch signaling in ECs, thereby linking genetic risk to endothelial dysfunction relevant to CAD pathogenesis.
Published in
Common Coronary Artery Disease Risk Variants in Endothelial Regulatory Elements Modulate Tetraspanin 14 Expression and Notch Signaling
Lee-Kim VS, Schnitzler GR, Fang S et al. · Arteriosclerosis, thrombosis, and vascular biology 2026 · PMID 42021732 · doi:10.1161/ATVBAHA.125.323330
This dataset
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE318807_RAW.tar (it can run to tens of gigabytes).

3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1420655 and SRA study SRP675636. Searching any of these in the dataset finder brings you back here.

Samples in this study

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+ 12 more — browse all 12 samples with per-sample file links →

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