Characterization Of Coronary Prone Pedigrees

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00005139
Recruitment Status : Completed
First Posted : May 26, 2000
Last Update Posted : January 21, 2016
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:
University of Utah

Brief Summary:
To determine the genetics and epidemiology of different types of early familial coronary disease. Accurate markers of major gene syndromes for early coronary disease were identified using a genetic segregation and linkage study of lipids, lipoproteins, apolipoproteins, and DNA probes in 36 large Utah pedigrees.

Condition or disease
Cardiovascular Diseases Coronary Disease Heart Diseases

Detailed Description:


Heart disease, with coronary heart disease as the main form, and stroke are respectively the first and third most common causes of death in the Unites States. Hypertension, diabetes, hyperlipidemia, and cigarette smoking have been demonstrated to be major risk factors for coronary heart disease and stroke. The first three risk factors have all been suggested to be determined in some degree by genetic factors.

In 1975 the National Heart and Lung Institute convened a Task Force on Genetic Factors in Atherosclerotic Disease to review what was known in the field and to identify fruitful research priorities for future study. The Task Force recommended utilizing existing genealogical files, sampling and studying large kindreds from a general population, evaluating both genetic and modifying factors, and encouraging collaborative studies by epidemiologists, biostatisticians and population geneticists.

The Utah population was well suited for a study of coronary prone pedigrees. The high birth rate and polygamy in ancestral founders of the state produced very large pedigrees. Pedigrees were relatively easy to find and trace with available genealogical records.


A computer data base of Utah residents was developed which included 1.2 million persons in genealogical files, 240,000 persons in death certificate files and 120,000 persons in Health Family Tree questionnaire files. Over 1,400 persons who were members of 21 coronary prone pedigrees were clinically screened.

Death certificate files were used to identify early coronary deaths which were defined as before age 55 in men and before age 65 in women. Mail and phone contacts were made to the surviving offspring, spouses, or siblings of the deceased proband to determine risk factor profiles for probands and close relatives. Hospital charts were also abstracted to assess risk factor profiles for probands. Clinical screening of the relatives of coronary probands were conducted using a detailed protocol assessing all standard coronary risk factors. Fasting blood tests were obtained for total cholesterol, triglycerides, high density lipoprotein, apo B, apo A-1, and apo E. At clinical screening, information was obtained on relationships, dates and places of vital events for the index person, spouse, offspring, siblings, parents, aunts and uncles, grandparents, grand aunts and uncles, and great-grandparents. Information was obtained on blood pressure, height, weight, electrocardiograms, physician's history and physical examination. Information was also collected on tobacco and alcohol use, hospitalization, medication usage, socioeconomic status, Type A personality, physical activity, and reproductive history.

Beginning in 1983 the investigators expanded the collection of computerized detailed family histories from the families of high school students participating in the Health Family Trees, a required health education course. Using the Health Family Trees, siblings were identified in which two or more siblings had early coronary heart disease. The information from the Health Family Trees was validated by contacting affected relatives and by collecting hospital data. These individuals then attended clinic screening. Detailed biochemical analyses of blood samples from these individuals were compared to find abnormalities that occured in both siblings with coronary heart disease and to identify specific subtypes of inherited early coronary disease. Testing for genetic linkage of DNA markers for apolipoproteins with these specific abnormalities was also done. Healthy age-sex matched controls with at least three siblings and no coronary heart disease in siblings or parents served as controls.

Study Type : Observational
Study Start Date : July 1977
Study Completion Date : December 1991

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
No eligibility criteria

Williams RR, Lyon JL, Brookert JE, Maness AT: Decline in Coronary Mortality Rates: Utah vs. United States. In: Proceedings of NHLBI Conference on Decline of Coronary Heart Disease Mortality (Havlik RJ, Feinlieb M, Eds). NIH Publ. No 79-16-10, p 48-57, 1979
Williams RR: The Role of Genes in Coronary Atherosclerosis. In: Update IV: The Heart. (Hurst JW, Ed). New York: McGraw Hill, pp 89-118, 1979
Williams RR: A Population Perspective for Early and Familial Coronary Heart Disease. In: Banbury Report 4: Proceedings of Conference on Human Health Data From Defined Populations. New York: Cold Spring Harbor Laboratory, pp 333-350, 1980
Williams RR: What is Your Genetic Risk of An Early Heart Attack? Executive Health, 16:1-8, 1980
Mason JO, Williams RR, Weber N: Family Health Trees: Targetting Prevention Strategies. Utah State Medical Assoc Bulletin, 31:14-16, 1983
Williams RR: Population Based Perspectives of the Genetic Epidemiology of Early Coronary Disease in Framingham and Utah. In: Genetic Epidemiology of Coronary Heart Disease: Past, Present, and Future (Rao DC, Elston RC, Kuller LH, Feinleib M, Carter C, Havlik R, Eds). New York: Alan R. Lisss Inc., pp 89-91, 1984
Williams RR, Hunt SC, Hopkins PN, Wu LL, Hasstedt SJ, Stults BM, Kuida H: Genes, Hypertension, and Early Familial Coronary Heart Disease. In: Hypertension: Pathophysiology, Diagnosis, and Management, (Laragh JH, Brenner BM, Eds). New York: Raven Press (In press 1988 Identifier: NCT00005139     History of Changes
Other Study ID Numbers: 1010
R01HL021088 ( U.S. NIH Grant/Contract )
First Posted: May 26, 2000    Key Record Dates
Last Update Posted: January 21, 2016
Last Verified: January 2016

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases
Coronary Disease
Coronary Artery Disease
Myocardial Ischemia
Vascular Diseases
Arterial Occlusive Diseases