Rare damaging mutations that are highly associated with increased triglyceride levels and the presence of coronary artery disease (CAD) were identified by an SKKU and Harvard University joint research team.

Together with Drs. Amit KHERA and Sekar KATHIRESAN (Massachusetts General Hospital, Harvard Medical School and Broad Institute), Prof. Hong Hee WON of Samsung Advanced Institute for Health Sciences and Technology (SAIHT) at SKKU and Samsung Medical Center analyzed DNA sequences of the lipoprotein lipase (LPL) gene of 46,891 individuals.

In this cross-sectional study of coronary artery disease case-control studies, gene sequencing identified a damaging mutation in the LPL gene in 188 of 46,891 individuals (0.4%). These mutations were associated with an increase of 19.6mg/dL in plasma triglycerides. In particular, these mutations were associated with increased odds of early-onset CAD with an odds ratio of 1.84. 

“In order to prevent cardiovascular disease, it is very important to control plasma triglyceride levels as well as LDL cholesterol,” Prof. WON mentioned, “I hope this finding leads to the development of drugs for targeting LPL and related proteins and controlling triglycerides so that it can help maintain  people’s health by preventing cardiovascular disease.”

This research, supported by the Basic Science Research Program of the National Research Foundation of Korea (NRF) and the Ministry of Science, ICT and Future Planning, was published in the Journal of American Medical Association, with the title of “Association of Rare and Common Variation in the Lipoprotein Lipase Gene with Coronary Artery Disease.”