Link between inherited DNA sequences and heart disease identified

A study to examine recessively inherited genome-wide DNA sequences has for the first time discovered a potential link with Britain’s biggest killer – Coronary Artery Disease (CAD).

The research led by a team from our Department of Cardiovascular Sciences was the first time that recessively inherited DNA sequences in the whole genome called Runs of homozygosity (ROHs) were examined for a connection to the disease.

The study appears in The American Journal of Human Genetics.

CAD is a terminal clinical manifestation of cardiovascular disease and is the leading cause of death worldwide and is the UK's single biggest killer. Nearly one in six men and one in ten women die from CAD. CAD is a complex, multifactorial disorder originating from a complicated interplay of multiple genetic and environmental factors.

Paraskevi Christofidou, from the Department of Cardiovascular Sciences said: “Our findings are important because they provide evidence for an excess of ROHs as a potential contributor to CAD and therefore support a theory on the role of recessive component in the genetic architecture of CAD.

“Additional work is needed to unravel the exact synergistic role of multiple recessive variants, homozygosity levels and their association to CAD.”

This project was part of Dr Christofidou's PhD under Dr Maciej Tomaszewski's and Professor Nilesh Samani's supervision and funded by the British Heart Foundation.

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