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Novel genetic variant affects inflammation and may increase heart disease risk by 50%

August 26, 2015


Inflammation can help the body fight infection, clean up damaged tissue and heal injuries, but too much inflammation can contribute to problems such as plaque build-up in the blood vessels and heart disease. Dr. Hsiao-Huei Chen and colleagues have discovered a novel genetic pathway that controls inflammation and plaque build-up in blood vessels, through proteins called IRF2BP2 and KLF2, expressed in specialized immune cells called macrophages. In collaboration with Dr. Alexandre Stewart from the University of Ottawa Heart Institute, they screened more than 1,000 people with heart disease and 1,000 controls, and found that approximately 10% had two copies of a partial deletion in the IRF2BP2 gene. People with the double deletion had a 50% greater relative risk of heart disease (overall risk 14% compared to 9.5%). The study, which was published in Circulation Research, could lead to better treatments and diagnosis for heart disease.

Co-authors: Keyhanian K, Zhou X, Vilmundarson RO, Almontashiri NA, Cruz S, Pandey NR, Yap NL, Ho T, Stewart CA, Huang H, Hari A, Geoffrion M, McPherson R, Rayner KJ.

Funders: Canadian Institutes of Health Research, Canadian Diabetes Association, Heart and Stroke Foundation of Canada, Natural Sciences and Engineering Research Council of Canada, The Ottawa Hospital Foundation


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