Gene Mutation May Reduce Risk of Cardiovascular Disease

Researchers at the University of Maryland School of Medicine in Baltimore recently announced that they have discovered a “novel gene mutation among the Old Order Amish population that significantly reduces the level of triglycerides in the blood and appears to help prevent cardiovascular disease.”

Lead researcher, Toni I. Pollin, PhD, an assistant professor of medicine at the University of Maryland School of Medicine, said that her team “found that about 5 percent of the Amish have a gene mutation that speeds up the breakdown of triglycerides.” Carriers of the APOC3 gene mutation have significantly reduced levels of apoC-III, a protein linked to triglycerides, higher levels of HDL-cholesterol, lower levels of LDL-cholesterol, and less arteriosclerosis. Study results were published in the December 12 issue of Science.

According to the news release, this is the first reported mutation within the human APOC3 gene that specifically blocks the production of apoC-III, discovered by researchers using a new approach called a genome-wide association study (GWAS) to scan 500,000 markers in the DNA of the study participants to find single nucleotide polymorphisms that are associated with triglyceride levels in the blood. Some study participants were also tested for calcium deposits in their coronary arteries, a clear sign of cardiovascular disease. Dr. Pollin said that people with the mutation were much less likely to have any calcification.

The current study was part of a larger University of Maryland research project, the Heredity and Phenotype Intervention (HAPI) Heart Study, which “examined how genes and lifestyle factors influence the risk of developing cardiovascular disease.” Results from the HAPI study were published in the April 2008 issue of the Journal of Hypertension; click here to read the full-text version of the article.

Click here to learn more about the University of Maryland’s research with Lancaster County’s Old Order Amish community.