Scripps Translational Science Institute Collaboration with University of California, San Diego (UCSD) Shows Insight to Heart Attacks and Multiple Vascular Diseases at Molecular Level

Published: Feb 10, 2011

SAN DIEGO, Feb. 10, 2011 /PRNewswire/ -- A new study involving researchers at the Scripps Translational Science Institute (STSI) and Scripps Health patients reveals major scientific progress in understanding the mechanism of heart disease at the molecular and genomic levels. STSI is an initiative of Scripps Health in collaboration with The Scripps Research Institute.

The study findings establish a link between coronary artery disease (CAD) and genetic susceptibility resulting in an abnormal inflammatory signaling response in a segment of the genome on chromosome 9 (9p21). The discovery sheds new light on the causes of heart disease and opens the door to developing improved approaches to control inflammation. The results from the study will be published Feb. 10 in Nature and also on the journal's website at

"The hope is that in the future we can find better ways to control inflammation for patients carrying these sequence variants, which may ultimately reduce their risks of heart attacks," said Dr. Eric J. Topol, a corresponding co-senior author of the paper and Chief Academic Officer at Scripps Health. "This was an extraordinary hunt to find how the risk DNA variant was exerting its effect, and it turned out to be quite remote through a gene known as STAT-1, a vital mediator of inflammation."

The findings are significant, as heart disease is the No. 1 killer of adults in the United States. Each year more than 1 million people in the United States have heart attacks, a complication of coronary artery disease, according to the Centers for Disease Control and Prevention.

Prior genome-wide association studies have identified eight genetic variants in a region of chromosome 9 known as 9p21. These genetic variants known as single nucleotide polymorphisms (SNPs) in the 9p21 gene desert are strongly associated with CAD and other vascular diseases.

"We had been perplexed as to how the specific location of genome has influenced not just heart attacks but abdominal aortic aneurysms and intracerebral artery aneurysms --so not just atherosclerosis by any means," said Dr. Topol. "Now we know it has to do with inflammation of the artery wall."

For the study, investigators analyzed the genetic profiles of 50 adults of European ancestry that were taken from a pool of 244 self-reported Caucasian males who were enrolled in the STSI ( biobank repository. Of this group, 25 samples had genetic risk markers for CAD, 24 samples had non-risk CAD genetic markers and one individual was non-risk with a mixed genetic marker.

The study was co-authored by scientists from leading research organizations in San Diego, including STSI; Rady Children's Hospital; and the University of California, San Diego.

SGHI is sponsored by STSI and the National Institutes of Health's flagship Clinical and Translational Science Award grant. The grant was awarded to The Scripps Research Institute, which then partnered with STSI. The study is also partially supported by funding from grants from the National Center for Research Resources.


Founded in 2006, Scripps Translational Science Institute (STSI) is an initiative of Scripps Health, in collaboration with The Scripps Research Institute. STSI initiates research designed to help move basic research from the lab to the patient bedside, bridging the gap between basic science and clinical trials. Scripps Genomic Medicine is a program of STSI and involves genotyping tens of thousands of individuals to identify and define genes responsible for major diseases and the underpinnings of health.


Founded in 1924 by philanthropist Ellen Browning Scripps, Scripps Healthis a $2.3 billion, private not-for-profit integrated health system based in San Diego, Calif. Scripps treats a half-million patients annually through the dedication of 2,500 affiliated physicians and 13,000 employees among its five acute-care hospital campuses, home health care services, and ambulatory care network of physician offices and 22 outpatient centers and clinics.

Recognized as a leader in the prevention, diagnosis, and treatment of disease, Scripps is also at the forefront of clinical research, genomic medicine, wireless health care and graduate medical education. Scripps has been recognized by Thomson Reuters as one of the Top 10 health systems in the nation for quality care. With three highly respected graduate medical education programs, Scripps is a longstanding member of the Association of American Medical Colleges. More information can be found at


The Scripps Research Institute is one of the world's largest independent, non-profit biomedical research organizations, at the forefront of basic biomedical science that seeks to comprehend the most fundamental processes of life. Scripps Research is internationally recognized for its discoveries in immunology, molecular and cellular biology, chemistry, neurosciences, autoimmune, cardiovascular, and infectious diseases, and synthetic vaccine development. An institution that evolved from the Scripps Metabolic Clinic founded by philanthropist Ellen Browning Scripps in 1924, Scripps Research currently employs approximately 3,000 scientists, postdoctoral fellows, scientific and other technicians, doctoral degree graduate students, and administrative and technical support personnel. Headquartered in La Jolla, Calif., the institute also includes Scripps Florida, whose researchers focus on basic biomedical science, drug discovery, and technology development. Scripps Florida is located in Jupiter, Fla. For more information, see

SOURCE Scripps Health

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