We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us

Download Mobile App




Mutations in the Apolipoprotein C3 Gene Lower Triglyceride Levels and Reduce Heart Disease Risk

By LabMedica International staff writers
Posted on 30 Jun 2014
Mutations, which prevent the normal functioning of the APOC3 (apolipoprotein C3) gene, lower blood triglyceride levels and reduce the risk of developing coronary artery disease (CAD).

Apolipoprotein C3 is a very low density lipoprotein (VLDL) protein. More...
APOC3 inhibits lipoprotein lipase and hepatic lipase and is thought to delay catabolism of triglyceride-rich particles.

To evaluate the linkage between triglycerides and APOC3 and the risk of developing CAD, investigators at Harvard Medical School (Cambridge, MA, USA) and colleagues at the University of Texas Health Science Center (Houston, USA) and the University of Washington (Seattle, USA) sequenced the protein-coding regions of 18,666 genes in each of 3734 participants of European or African ancestry in the [US] National Heart, Lung, and Blood Institute's Exome Sequencing Project. The investigators conducted tests to determine whether rare mutations in coding sequence, individually or in aggregate within a gene, were associated with plasma triglyceride levels.

After identifying four APOC3 mutations that lowered levels of circulating triglycerides, the investigators evaluated their association with the risk of coronary heart disease in 110,970 persons.

Results revealed that approximately one in 150 persons (0.67%) in the study was a heterozygous carrier of at least one of the four triglyceride-lowering mutations. Triglyceride levels in the carriers were 39% lower than levels in non-carriers, and circulating levels of APOC3 in carriers were 46% lower than levels in non-carriers. The risk of coronary heart disease among 498 carriers of any rare APOC3 mutation was 40% lower than the risk among 110,472 non-carriers.

"The combination of our genetic results, together with recent clinical trials of drugs that raised HDL levels but failed to prevent heart disease, are turning decades of conventional wisdom on its head," said senior author Dr. Sekar Kathiresan, associate professor of medicine at Harvard Medical School. "HDL and triglycerides are both correlated with heart attack, and have an inverse relationship with one another—the lower the HDL, the higher the triglycerides. It has long been presumed that low HDL is the causal factor in heart disease, and triglycerides are along for the ride. But our genetic data indicate that the true causal factor may not be HDL after all, but triglycerides."

"Although statins remain a powerful arrow in the quiver, the notion of residual risk of coronary heart disease continues to be a significant clinical problem," said Dr. Kathiresan. "Our study really reinvigorates the idea of lowering triglycerides and specifically, by blocking APOC3, as a viable therapeutic strategy for addressing residual risk."

The study was published in the June 18, 2014, online issue of the New England Journal of Medicine (NEJM).

Related Links:

Harvard Medical School
University of Texas Health Science Center
University of Washington



New
Gold Member
Collection and Transport System
PurSafe Plus®
Portable Electronic Pipette
Mini 96
Blood Glucose Test Strip
AutoSense Test
Gold Member
Hematology Analyzer
Medonic M32B
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








Channels

Hematology

view channel
Image: New evidence shows viscoelastic testing can improve assessment of blood clotting during postpartum hemorrhage (Photo courtesy of 123RF)

Viscoelastic Testing Could Improve Treatment of Maternal Hemorrhage

Postpartum hemorrhage, severe bleeding after childbirth, remains one of the leading causes of maternal mortality worldwide, yet many of these deaths are preventable. Standard care can be hindered by delays... Read more

Immunology

view channel
Image: The CloneSeq-SV approach can allow researchers to study how cells within high-grade serous ovarian cancer change over time (Photo courtesy of MSK)

Blood Test Tracks Treatment Resistance in High-Grade Serous Ovarian Cancer

High-grade serous ovarian cancer (HGSOC) is often diagnosed at an advanced stage because it spreads microscopically throughout the abdomen, and although initial surgery and chemotherapy can work, most... Read more

Pathology

view channel
Image: The new system allows surgeons to identify genotyping of brain tumors and determine optimal resection margins during surgery (Photo courtesy of Nagoya University)

New Technique Detects Genetic Mutations in Brain Tumors During Surgery within 25 Minutes

Determining the genetic profile of brain tumors during surgery is crucial for improving patient outcomes, but conventional analysis methods can take up to two days, delaying critical decisions.... Read more

Industry

view channel
Image: The collaboration aims to improve access to Hb variant testing with the Gazelle POC diagnostic platform (Photo courtesy of Hemex Health)

Terumo BCT and Hemex Health Collaborate to Improve Access to Testing for Hemoglobin Disorders

Millions of people worldwide living with sickle cell disease and other hemoglobin disorders experience delayed diagnosis and limited access to effective care, particularly in regions where testing is scarce.... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.