Department of Internal Medicine
Cardiology Division - Cardiovascular Genetics

Cardiovascular Genetics (CVG) was founded in 1977 as part of the Division of Cardiology.  We have six faculty members within our section and we have close collaborations with other faculty in other sections of Cardiology and in Departments of Human Genetics, Medical Informatics and Radiology within the University of Utah School of Medicine, and with the Cardiology Department and Fitness Institute at LDS Hospital. The research focus of CVG is to explore causes of premature heart attacks and strokes in high-risk families and to use this knowledge to promote disease prevention in these families. We study the major risk factors for atherosclerosis including abnormal lipids (such as familial hypercholesterolemia (FH), familial combined hyperlipidemia, low HDL, and other familial syndromes), high blood pressure, diabetes, obesity and other risk factors (e.g. homocysteine, insulin resistance, estrogen deficiency). Our main expertise is the finding, recruitment, clinical characterization, genetic characterization, and measurement of risk factors in high-risk families and the application of genetic epidemiology techniques and linkage analysis to determine underlying patterns of inheritance. We provide state-of-the-art patient care for atheroprevention in our Cardiovascular Disease Prevention Clinic. We also perform cutting-edge clinical research in the study of new treatments for cholesterol, blood pressure, diabetes and obesity.
ROGER R WILLIAMS Roger R. Williams, M.D., professor of internal medicine and a recognized expert in the field of cardiovascular genetics, was the founding director of the Cardiovascular Genetics Research Clinic.  He was one of the medical school's most successful faculty members in obtaining research funding.  After joining the U of U faculty in 1976, he was principal investigator on 21 research grants totaling $18.9 million.  Nearly $16 million of that total was awarded by the National Institutes of Health for investigations into the genetic and environmental determinants of hypertension, characterization of coronary-prone pedigrees, heart attack and stroke deaths in Utah families and other subjects. Dr. Williams developed effective new tools for evaluating and helping families with strong familial predisposition to early coronary disease, stroke, hypertension, diabetes, breast cancer and morbid obesity.  These tools include:  detailed family history data collection and quantitative scoring methods, biochemical and physiological tests for preclinical disease detection and emerging DNA tests for genes related to heart-related illnesses.  He was the author of more than 200 scientific publications and he chaired numerous committees for the National Institutes of Health. Dr. Williams suffered an untimely death at age 54 on September 2, 1998 in the crash of a Swissair jetliner off the coast of Nova Scotia.  He was en route to Geneva for a World Health Organization meeting, where he was to chair the proceedings of an international group of scientists from 30 countries who participate in "MED PED", a global public health project he designed to combine new discoveries in genetics and computerized genealogical tools to trace medical pedigrees.  Despite the sudden and tragic death of Dr. Williams, the CVG faculty and staff were left with the wonderful legacy of his work.  The memory of his energy, enthusiasm, vision and goodness continues to inspire and motivate the faculty and staff of CVG and, indeed, scientists throughout the world.  The goal of CVG is to pursue and expand Dr. Williams' dream of vanquishing atherosclerosis, the number one cause of death in the US and throughout the Western world.		Roger Williams Founder 1944-1998

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What We Do

CVG research funding includes grants from the NIH, private foundations and the pharmaceutical industry. Current research projects are studying:

1. Long-term changes in atherosclerosis (measured as carotid intimal-medial thickness, or CIMT, by ultrasound of the neck) in families with lipid disorders, and their relationships with major risk factors such as cholesterol, blood pressure, abnormal glucose, oxidation, etc.  

2. A global registry of patients with severely increased cholesterol (FH).  Over 50,000 heterozygotes from 35 countries have been identified and are eligible for participation in research studies and for referral for treatment.

3. Genetic linkage of lipids in large pedigrees selected for high risk of CHD. Over 500 genetic markers have been studied so far.

4. Genetic linkage of obesity and of thinness in large pedigrees.

5. Genetic linkage and association analyses of high blood pressure using sophisticated measurements such as ultrasound of the heart (echocardiogram). This is part of the NIH-sponsored NHLBI Family Blood Pressure Program, a collaboration of 20 universities to find genes for hypertension and cardiac size/function. Almost 400 linkage markers have been studied and single nucleotide polymorphisms (SNPs) are now being measured.

6. Genetic association analyses of response of blood pressure to a low and high salt diet.

7. Genetic linkage of a large number of atherosclerosis risk factors in three-generation pedigrees. This is a multi-center study from the NIH called the NHLBI Family Heart Study. We are studying lipids, clotting factors, homocysteine, blood pressure, body fat, inflammation, and CIMT. Many subjects have returned seven years after initial visits for new measurements, including testing of calcium in the coronary arteries and aorta by CT scans.

8. The genetic epidemiology of aging as measured by changes in cardiovascular risk factors over 10 years of follow-up in members of large pedigrees. Almost 400 linkage markers have been genotyped on all subjects and SNPs are currently being pursued. 20-year follow-up of morbidity and mortality is also underway.

9. The morbidity and mortality associated with gastric bypass surgery (Roux-en-Y procedure) for weight loss is being evaluated in 400 severely obese surgical patients compared to 800 equally obese controls who did not have surgery. Metabolic rates, pulmonary function, ECG, echocardiography, treadmill tests, measurements of blood levels and body fat, sleep apnea, blood pressure, and other information is collected during an overnight stay in the clinical research center of the School of Medicine.

10. Genetic control of response to medications for lowering triglyceride levels.

11. Effects of estrogen replacement (low dose pill or patch vs placebo) on atherosclerosis and its risk factors in women just past menopause. This is a multicenter study called Kronos Early Estrogen Progestin Study (KEEPS) sponsored by a private foundation.

12. The composition and function of HDL (the good cholesterol) in patients with very high or low levels, and with or without atherosclerosis.

CVG also conducts multiple industry-sponsored projects testing the efficacy and safety of exciting new medications for the control of cholesterol and other major risk factors of atherosclerosis.