Three genes found that contribute to blood clotting

Thrombus
© Steve Gschmeissner
Photo Researchers, Inc.

At the Centre for Cognitive Ageing and Cognitive Epidemiology of the University of Edinburgh, researchers have identified 3 genes that contribute substantially to the speed of blood clot formation.

F12, HRG, and KNG1 play an important role in the variation of pace in blood clot formation among healthy individuals.

The team, led by Ian Deary, PhD, at the University of Edinburgh, believes their discovery could provide understanding of the genetic causes of thrombosis, heart attacks, and some types of stroke.

“The team is excited to have contributed to this ‘first’ in the genetics of blood clotting. Within the team we are lucky to have experts in medicine, genetics, and blood coagulation, who helped enormously in appreciating just how big a discovery this was. We are now following up on these findings to establish their clinical significance,” said Dr Deary.

Dr Deary and colleagues were testing members of the Lothian Birth Cohorts of 1921 and 1936, all now over the age of 70 years, for clues to healthy aging. The participants live in the Edinburgh area and had taken part in the Scottish Mental Surveys of 1932 and 1947.

The study looked for associations among 500,000 genetic markers and the time it took blood to clot, which was measured using activated partial thromboplastin time (aPTT).

Lorna Houlihan, PhD, from the University of Edinburgh, performed the analysis with the assistance of experts in Edinburgh, Glasgow, and Brisbane.

“This is an exciting genetic discovery, especially as so few genes account for such a large effect,” Dr Houlihan said. “When I saw this huge finding on the genetics of blood clotting I first checked that it occurred in both our groups—it did. Then I checked that no one else had discovered this—they hadn’t. Then the team set about establishing the possible medical implications for some blood disorders.”

The team is now encouraging research teams working on relevant medical disorders to study these genes.

Results of the study are published in the American Journal of Human Genetics.