Genome-wide scanning reveals ten gene variants influencing heart disease

Research lead

An international science consortium led by Arne Pfeufer of Helmholtz Zentrum München has identified ten common gene variants that influence the electrical activity of the heart muscle in humans and thus can be linked to cardiac arrhythmias and sudden cardiac death.

This will provide the platform for further studies to reveal the exact role of these variants, providing insights for early diagnosis and therapy. The ten gene variants, which predispose to an elevated risk for arrhythmias and sudden cardiac death, were uncovered via the examination of electrocardiograms from more than 15,000 people from Germany, Italy and the US.

The scientists were not looking for rare variants carried by only a few people, but common gene variants that do not increase the personal disease risk as single genes, but rather in combination, and in the context of other risk factors.

Over the past couple of years genome-wide searching for common gene variants associated with common chronic diseases has proved very productive, offering entirely new starting points for the investigation of common diseases.

Follow-up studies will aim to confirm the connection between the new gene variants and sudden cardiac death. The objective of the Helmholtz scientists and their clinical partners is to gain further insights into the mechanism of action of these variants, and thus gain perspectives for improved risk prediction and improved treatments.