Celera Genomics, an Applera Corporation business, the University of California, San Francisco (UCSF), Cleveland Clinic, Case Western Reserve University and Brigham Young University, have announced a publication describing two genetic markers associated with an increased risk for myocardial infarction (MI), or heart attack.
Neither of the two gene variants, VAMP8 and HNRPUL1, has previously been associated with MI.
This paper will appear in the July 2006 edition of Arteriosclerosis, Thrombosis and Vascular Biology, and is currently available on the publication's website.
The retrospective research study performed in samples from over 2,000 individuals in three case-control studies identified two genetic variations known as single nucleotide polymorphisms that are associated with increased risk for early-onset heart attack.
The study identified genetic markers in two genes: VAMP8, which is involved in platelet aggregation; and HNRPUL1, which encodes a ribonuclear protein.
"A number of studies have identified genes linked to increased heart attack risk, but many of the studies have been made with a single cohort of patients and have not been replicated," said John P. Kane, M.D., Ph.D., Professor of medicine at UCSF.
"This study involved three sequential cohorts, and applied statistical analysis that provides the likelihood that these are indeed true associations."
"In order for genetic marker studies to translate into diagnostic tests with significant medical impact, discovery study results must be reproducible and applicable to a wide group of people," said Tom White, Ph.D., Chief Scientific Officer at Celera Genomics.
"Too often, when new markers are reported, the disease association cannot be confirmed because the study used a small sample set that was not representative of other samples sets."
"In addition, a spurious disease association could be found due to chance alone if a large number of SNPs are tested."
"The size of this study and the identification of VAMP8 and HNRPUL1, coupled with other prospective studies of the general population underway at Celera, are providing valuable insight toward the development of a Genetic Risk Score™ that may be used just as conventional risk factors are used to identify individuals at elevated risk for heart disease."
"Large scale studies like this one, with well-characterized samples from carefully selected patients allow the identification of genetic markers for risk of early-onset MI, which could potentially be incorporated into individual risk assessment protocols," said Stephen G. Ellis, M.D. Director, Sones Cardiac Department of Cardiovascular Medicine, and Professor of Medicine at the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University.