Research solves mystery of genetic risk factor for heart disease

November 4, 2015

A study led by Drs. Hsiao-Huei Chen and Alexandre Stewart has finally solved a long-standing mystery of heart disease. More than eight years ago, Dr. Stewart discovered that people with variations in a certain region of DNA (called 9p21.3) have a 21% increased risk of heart disease. However, this region of DNA was thought to be in a so-called “gene desert”, with no known function.

Now, Drs. Chen and Stewart have finally discovered that this DNA region plays a crucial role in regulating the proliferation of the smooth muscle cells that line our blood vessels, and the genetic variations disrupt this process. The mechanism involves proteins called TEAD3, TEAD4 and p16. This research opens to the door for the development of novel therapies that target this molecular pathway to prevent and treat heart disease.

The study is published in Circulation.

Dr. Chen is affiliated with The Ottawa Hospital and the University of Ottawa Brain and Mind Research Institute. Dr. Stewart is affiliated with the University of Ottawa Heart Institute.

Co-authors: Almontashiri NA, Antoine D, Zhou X, Vilmundarson RO, Zhang SX, Hao KN.

Funders: Canadian Institute of Health Research, Natural Sciences and Engineering Research Council of Canada, Heart and Stroke Foundation, Taibah University (Saudi Arabia), University of Ottawa Heart Institute, The Ottawa Hospital Foundation

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