UCL Institute of Cardiovascular Science


Cardiovascular genetics



Risk of heart disease often runs in families, suggesting a genetic influence. These may be single gene defects or many genes which together increase risk of heart disease. To identify precisely the genes involved, a consortium has been established at UCL which enables us to study more than 25,000 healthy individuals followed over many years for the development of heart disease. In the future this may lead to the development of genetic tests that will help identify those at risk of early heart disease so they can be offered lifestyle and therapeutic measures to reduce their risk.

Key research activities

Using Genetics to Understand Multi-factorial Heart Disease and Identify People at Risk

Conventional heart disease risk factors, such as cholesterol levels, blood pressure etc. only explains part of an individual’s risk, but we can add genetic information to these factors and improve risk prediction.

More than 40 genes have been identified that influence an individual’s risk and we are measuring them in large groups of healthy people and people with heart disease to work out how they cause disease, and the best combination to use to identify those at risk.

Understanding the Functional Basis of these Genetic Effects

Identifying the exact change in the gene that can explain these associations is our ultimate goal. This may help develop new drugs used to treat people at high risk. New methodologies and the novel use of Bioinformatics are being developed in our Centre to achieve this.

Familial Hypercholesteroleamia (FH) - Single Gene Defect Causing Early Heart Disease

In the UK an estimated 120,000 individuals have FH, caused by a single gene defect, resulting in high blood cholesterol and increased early heart disease. FH patients respond well to cholesterol-lowering by statins making early identification important and life-saving. We have shown that it is cost-effective to use a genetic test in these families to identify new FH cases. We are using state of the art “Deep-Sequencing” technology to identify the genetic basis of FH in those patients where no mutation can currently be found. 

Northwick Park Heart Study II

The second Northwick Park Heart Study (NPHSII) was a large prospective study of men from nine UK medical practices: Carnoustie, St Andrews, Chesterfield (classified as northern practices) and Camberly, Aylesbury, Harefield, Halesworth, Parkstone and North Mymms. The study was originally initiated by the late Professor George Miller in the late 1980s. 

Starting in 1989, middle-aged men from these general practiceawere invited to be part of this study to look at the causes of Cardiovascular disease (angina Heart Attack or Stroke). As well as a blood sample for measuring risk factors such as cholesterol and clotting factors a separate sample was taken for genetic studies.

The results from the study have been published in more than 70 papers in journals like the Lancet and the British Medical Journal, and the study is known world wide for its contributions to our understanding of the causes of heart disease and diabetes, and particularly the genetic factors with influence risk.

We would like to thank those that took part in the study!

The study is now being run from UCL, with funding from the British Heart Foundation, and we continue to receive mortality and cause-of-death information from the Office of National Statistics  which will contribute to our future research.

You can find more information relating to the study in the link below: