In the largest genetic study of coronary artery disease (CAD) to date, researchers from the CARDIoGRAMplusC4D Consortium report the identification of 15 genetic regions newly associated with the disease. This brings to 46 the number of regions associated with CAD risk.
In the study, published in the journal Nature, 104 more independent genetic variants that are very likely to be associated with the disease were identified, enhancing knowledge of the genetic component that causes CAD. The discoveries identified biological pathways that underlie the disease and showed that lipid metabolism and inflammation play a significant role in CAD.
The Consortium, spanning over 180 researchers from countries across Europe (UK, Germany, Iceland, Sweden, Finland, France, Italy, and Greece), Lebanon, Pakistan, Korea, the United States, and Canada, analyzed DNA from over 60,000 CAD cases and 130,000 apparently unaffected people. The researchers integrated the genetic findings into a network analysis and, unsurprisingly, found the metabolism of fats being the most prominent pathway linked to CAD. The second most prominent pathway, however, was inflammation. This provides evidence at the molecular level for the link between inflammation and heart disease.
The importance of the work is that while some of the genetic variants that were identified work through known risk factors for CAD such as high blood pressure and cholesterol, many of the variants appear to work through unknown mechanisms. Understanding how these genetic variants affect CAD risk is the next goal, and this could pave a way to developing new treatments. Read the study abstract.
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