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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.

Regards
Jiten
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