Cardiovascular Disease Research

Powerful tools for cardiovascular disease research

Next-generation sequencing (NGS) and microarrays are powerful tools to reveal how various genes and genetic variants affect cardiovascular disease. NGS-driven advances are enabled by a growing range of genomics tools and applications available to heart disease researchers. Even the discovery of a single gene or variant can reveal vast insights into the complex nature of cardiovascular disorders.

Estimating cardiovascular disease risk with polygenic risk scores

Polygenic risk scores (PRS) are an estimate of an individual's genetic risk for a specific trait or condition, obtained by aggregating and quantifying the effect of many common variants. Using PRS, in addition to typical screening methods, can help to identify individuals at risk for coronary artery disease who could have otherwise been missed.¹

PRS overview: Introduction to polygenic risk scores
PRS research microarray: Infinium Global Diversity Array with PRS Content
Analyzing PRS research data: Illumina PRS software

Going beyond DNA sequence changes

Epigenetics is the study of chemical modifications that occur to the genome that regulate gene expression at the DNA, RNA, and histone level through methylation, acetylation, ubiquitination, and phosphorylation. Epigenetic based therapies, or epi-drugs, continue to be explored and developed for potential treatment options. Some existing drugs used to treat heart failure have known epigenetic effects, including statins, metformin, apresoline, and SGLT2 inhibitors.²

Epigenetics background: Introduction to epigenetics
NGS solutions: ChIP-Seq for DNA-protein interaction studies; ATAC-Seq for chromatin accessibility analysis
Array solutions: Methylation arrays

NGS and protein analysis

Proteomics is the study of a protein’s structure, function, and regulation. NGS-powered assays in proteomics can be used to better understand functional relationships between genes and proteins in bulk cell populations or even at the level of single cells. In some cases, this approach enables researchers to study these relationships within the context of preserved tissues.

Proteomics background: Introduction to proteomics
Bulk protein and sequencing: BEN-Seq app note
Surface protein detection and sequencing data at the single-cell level: CITE-Seq
Transcriptional activity within intact tissues: Spatial transcriptomics

Enhancing cardiovascular disease research with whole-genome sequencing

Whole-genome sequencing (WGS) is a powerful and comprehensive tool to analyze entire genomes, allowing researchers to identify inherited disorders such as those for heart disease. This approach has discovered causative gene variants in which prior genetic testing was inconclusive or negative.^3,4 WGS can also pave the way for future applications to detect single nucleotide variants, insertions/deletions, copy number changes, and large structural variants.

Learn more about WGS

Featured product

TruSight One Expanded Sequencing Panels

The TruSight One Expanded Panels provide clinical research labs with an affordable solution for managing a diverse assay portfolio. Investigators can choose to analyze all genes on a panel or focus on a specific subset. With a single assay, labs can expand existing menus, streamline workflows, or create an entire portfolio of sequencing options. This assay offers 181 cardiac genes related to 18 inherited cardiac conditions (ICCs).

Cardiac conditions covered by TruSight One Expanded Sequencing Panels*

Arrhythmias

Familial atrial fibrillation (21)
Long QT syndromes (15)
Brugada syndrome (13)
CPVT: catecholaminergic polymorphic ventricular tachycardia (6)
Short QT syndrome (4)

Cardiomyopathies

Dilated cardiomyopathy (59 genes covered)
Hypertrophic cardiomyopathy (50)
ARVC: arrhythmogenic right ventricular cardiomyopathy (11)
Noonan syndrome (11)
Non-compaction cardiomyopathy (10)
Restrictive cardiomyopathy (9)

Aortopathies

Familial aortic aneurysm (16)
Heritable thoracic aortic dissection (4)
Loeys-Dietz syndrome (4)
Aortic valve disease (3)
Marfan syndrome (3)

Other cardiac conditions

Structural heart disease (15)
Familial hypercholesterolemia (10)

*Numbers represent number of associated genes on the TruSight One Expanded Panels.

THOUGHT LEADERSHIP

Featured cardiovascular disease research experts

Interview: pharmacogenetics of cardiovascular disease therapy

Improving cardiovascular therapies through pharmacogenomics

Pharmacogenomics can reveal how a patient responds to drugs and serve as an important tool to identify efficacy. In this interview, Dr. Marie-Pierre Dubé, PhD discusses how she identified genotypes of responders and nonresponders using Illumina technologies.

Webinar: cardiovascular outcomes and genetic testing

Can genetic testing improve cardiovascular outcomes?

In this webinar, Dr. Joshua Knowles discusses the importance of genetic cascade testing in familial hypercholesteremia, as well as implementing polygenic risk scores in clinical care.

Podcast: genetics to predict heart attack risk

Using genetics to predict heart attack risk

In this podcast, Dr. Guillaume Paré discusses how genetics can help identify people at risk for familial hypercholesterolemia and early cardiovascular disease.

Advancing cardiovascular disease research with genomics