Your genes and the risk of cardiovascular disease
Today, 7.4 million people in the UK are living with cardiovascular disease.
Cardiovascular diseases such as heart attacks and strokes develop in very complex ways. Many factors can influence your risk of developing these diseases, including your age, sex, ethnicity, weight, blood pressure, blood cholesterol and whether you smoke or have diabetes.
We also know that genetics plays a role in determining your disease risk. That’s why cardiovascular diseases occur more frequently in some families compared to others.
Recent scientific advances have identified many common changes in genes (i.e. specific parts of your DNA) that affect your risk of cardiovascular diseases. Individually, the effect of each genetic change on your risk is usually small. However, even these small DNA changes can tell us a lot about the biology of cardiovascular diseases, as they pinpoint specific genes that may be important.
What our studies aim to achieve
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease. Indeed, these studies have identified hundreds of genes that could influence a person’s risk of cardiovascular disease. However, for the vast majority of the genes, we do not know how the DNA changes in these genes contribute to the risk of cardiovascular disease.
Our overarching research goal is to discover the genes that influence cardiovascular diseases and to find out exactly how they do so.
In particular, we want to idenify and characterise the complex biological processes that cause cardiovascular diseases. We do this using ‘recall by genotype’ studies, which measure specific molecular, cellular and physiological characteristics of heart health, and relate them to the genes you carry.
By improving our knowledge of cardiovascular diseases, we hope our research will lead to better diagnosis, and tailored prevention and treatment that will improve lives.
How ‘recall by genotype’ studies work
Carefully selected volunteers
The volunteers in our studies are recruited from the NIHR BioResource.
The BioResource is a panel of over 200,000 volunteers – with or without health conditions – who are willing to be contacted to participate in research studies investigating the links between genes, the environment, health and disease.
What makes the NIHR BioResource unique is that researchers are able to recruit volunteers for research studies based on their genetic make-up.
Volunteers who join the NIHR BioResource donate their DNA via a blood or saliva sample. The DNA sample is analysed to find out which gene or genes of interest (so-called ‘genotype’) each volunteer carries. The genotype is used, together with other information, such as sex, BMI and ethnicity, to match the volunteers to specific research studies.
Linking genetics to heart health
When volunteers from the NIHR BioResource panel participate in a study, they will be asked to donate more samples that allow researchers to study different biological characteristics of their health (e.g. the levels of particular molecules in blood or the presence of disease). This so-called ‘phenotype’ can then be linked to their genetic data, potentially revealing trends between particular genetic changes, cardiovascular health and disease.
As illustrated in the picture below, participants are selected based on whether they carry a particular genetic variant (‘cases’) or not (‘controls’), which is of particular interest to the study investigators. Volunteers donate blood samples and undergo other tests, and the results are compared between the groups to answer the research question.
Because prospective volunteers are invited back to the BioResource after they have donated their DNA sample, the research studies are referred to as ‘recall’-studies or ‘recall by genotype’ studies. Researchers apply to the NIHR BioResource to recruit volunteers for individual studies. For each study, usually fewer than 100 volunteers are recruited.
The NIHR BioResource
There are 13 local centres throughout England that form the NIHR National BioResource, including Birmingham, Exeter, Leeds, Leicester, London and Manchester.
Our local centre, the NIHR Centre Cambridge, has recruited around 17,500 volunteers so far.
The NIHR BioResource also recruits volunteers with rare diseases and their relatives to join the NIHR BioResource – Rare Diseases Initiative.
The Rare Diseases Initiative comprises over 100 different projects. These projects apply the latest DNA analysis technologies to identify the genetic causes of these rare diseases.
Learn more about our studies
We presented on the role of genetics in cardiovascular health and disease and on the background of our studies at the Cambridge Festival 2021. Here, you can watch a recording of the presentation and panel discussion.