UCD team discovers genetic link to blood clots

Research reveals genetic markers which identify why some people are prone to heart attacks

IRISH SCIENTISTS have spearheaded a major breakthrough in understanding why some people are more prone to developing potentially fatal blood clots.

A team from the Conway Institute at University College Dublin, working in collaboration with a Europe-wide consortium, has uncovered a series of genetic markers which identify people at risk of excessive clot formation and heart attack.

The research, published in the leading haematology journal Blood , is predicted to advance radically the detection and treatment of coronary artery disease (CAD), the most common cause of premature death in Ireland.

Heart attacks normally arise from clots in the coronary artery. The clotting mechanism is initiated by platelets, tiny cellular particles that float in the bloodstream. When bleeding occurs, chemical reactions change the surface of the platelets to make them sticky, enabling them to fuse together on the surface of blood cells and form a clot.

It has long been observed that the level of platelet activity and clot formation vary considerably from person to person, partly as a result of their genetic make-up.

As part of the European Union’s Bloodomics project, the UCD team investigated the complex genetic pathways involved in platelet activity to understand better how they are involved in heart disease. The team managed to link, for the first time, a number of the 60 or so genetic variants associated platelet activity to an increased risk of heart attack.

“Essentially, we have found the genetic traits that promote clot formation in people who have a history of heart disease,” said biochemist Dr Patricia Maguire, who jointly led the UCD team’s work alongside professor of molecular medicine and vice-president for research at the university, Desmond Fitzgerald.

Identifying the at-risk category at an early stage should enable doctors to prevent people developing CAD through lifestyle changes and/or medication, she said.

Separate from the research, published this month, the UCD team has also uncovered a specific pathway, not observed before, which dampens down platelet activity.

While anti-clotting drugs such as aspirin have been used by physicians to treat people at risk from heart attack since the 1980s, the drugs do not appear to work on a significant subset of patients. Dr Maguire believes the discovery of a specific pathway which lessens platelet activity may play an important role in the development of new drugs to treat heart disease.

According to figures from the Irish Heart Foundation, cardiovascular disease, which includes CAD and stroke, is the principal cause of mortality in more than 35 per cent of all Irish deaths – about 10,000 lives every year. CAD accounts for nearly half of these deaths, making it the single biggest cause of mortality in Irish men and women.

The UCD team’s research was funded jointly by the European Union and Irish Health Research Board.

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