The main research interest of Iftikhar J. Kullo, M.D., is in biomarkers of cardiovascular risk. Through his Atherosclerosis and Lipid Genomics Laboratory, Dr. Kullo is investigating the use of new methodologies in refining cardiovascular risk stratification. These include genetic markers, circulating biomarkers, and noninvasive tests of arterial function and structure.
- Genetics of arterial plaques (atherosclerosis). Dr. Kullo's lab uses family history studies, linkage studies, candidate gene association studies, genome-wide association studies and genome sequencing to study the genetic basis of atherosclerosis.
- Familial hypercholesterolemia (FH). Dr. Kullo's laboratory is engaged in several projects related to FH, including the use of electronic phenotyping for rapid ascertainment of FH from electronic health records (EHRs), use of EHR-based strategies to improve outcomes in patients with FH, assigning pathogenicity to variants identified from sequencing of FH-related genes and investigating the pleiotropic effects of FH-related genes.
- Implementing genomic medicine in the EHR. Dr. Kullo's laboratory conducts clinical trials in genomic medicine, such as the recently concluded Myocardioal Infarction Genes (MI-GENES) study, which assessed the effect on LDL cholesterol of disclosing a genetic risk score for coronary heart disease based on 28 susceptibility variants. Another project is investigating the clinical utility of a genetic risk score composed of susceptibility variants for abdominal aortic aneurysm.
- Genomic discovery using EHRs. Dr. Kullo and collaborators are working with the Electronic Medical Records and Genomics (eMERGE) Network to develop better ways to use EHR-linked biorepositories for large-scale genomic research.
- Proteomic markers for vascular disease. Dr. Kullo's team studies the connections between novel protein markers and measurable traits of vascular disease, such as coronary artery calcium, cerebral leukoaraiosis, albuminuria and ankle-brachial index, with the goal of identifying new proteomic markers for vascular disease.
- Arterial stiffness and ventricular arterial interactions. The laboratory is investigating the clinical utility of measures of arterial stiffness such as aortic pulse wave velocity and characteristic impedance. The research team is also studying the association of arterial stiffness on measures of left ventricular function including longitudinal strain and diastolic function.
- Peripheral arterial disease (PAD). The laboratory is engaged in clinical investigation related to PAD, including epidemiology of symptomatic PAD, the genetic bases of PAD and alterations in arterial function in patients with PAD.
- Vascular diseases biorepository. Dr. Kullo's lab is creating a vascular diseases biorepository containing DNA, serum, plasma and cell line samples from volunteers with common vascular diseases — including carotid artery stenosis, aortic aneurysm and peripheral arterial disease — and rare vascular traits, including fibromuscular dysplasia.
Significance to patient care
Atherosclerotic vascular disease is the leading cause of mortality and morbidity in the U.S. Often, the first manifestation is myocardial infarction, ischemic stroke or sudden death. Currently available risk-prediction algorithms are suboptimal when it comes to predicting such adverse outcomes in asymptomatic individuals.
The main focus of Dr. Kullo's laboratory is to improve the ability to predict adverse cardiovascular events in asymptomatic individuals using genetic susceptibility markers, circulating biomarkers and measurements of arterial function.
- Clinical and Integrative Cardiovascular Science Study Section, Center for Scientific Review, National Institutes of Health (NIH), 2014-present
- Co-chair, Return of Results/Ethical, Legal and Social Implications working group, eMERGE Network, 2011-present
- National Advisory Council on Human Genome Research, NIH, 2022-2024
- Chair, Genomics, Translational Biology and Observational Epidemiology (GTOE) Study Section, American Heart Association, 2013
- Travel grant recipient, American Society for Clinical Investigation-Association of American Physicians Joint Meeting, 2007
- New investigator award recipient, Department of Medicine, Mayo Clinic, 2006