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Hyperlipidemia in Coronary Heart Disease II. GENETIC ANALYSIS OF LIPID LEVELS IN 176 FAMILIES AND DELINEATION OF A NEW INHERITED DISORDER, COMBINED HYPERLIPIDEMIA
Joseph L. Goldstein, … , Edwin L. Bierman, Arno G. Motulsky
Joseph L. Goldstein, … , Edwin L. Bierman, Arno G. Motulsky
Published July 1, 1973
Citation Information: J Clin Invest. 1973;52(7):1544-1568. https://doi.org/10.1172/JCI107332.
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Hyperlipidemia in Coronary Heart Disease II. GENETIC ANALYSIS OF LIPID LEVELS IN 176 FAMILIES AND DELINEATION OF A NEW INHERITED DISORDER, COMBINED HYPERLIPIDEMIA

Abstract

To assess the genetics of hyperlipidemia in coronary heart disease, family studies were carried out in 2520 relatives and spouses of 176 survivors of myocardial infarction, including 149 hyperlipidemic and 27 normolipidemic individuals. The distribution of fasting plasma cholesterol and triglyceride values in relatives, together with segregation analyses, suggested the presence of five distinct lipid disorders. Three of these—familial hypercholesterolemia, familial hypertriglyceridemia, and familial combined hyperlipidemia—appeared to represent dominant expression of three different autosomal genes, occurring in about 20% of survivors below 60 yr of age and 7% of all older survivors. Two other disorders—polygenic hypercholesterolemia and sporadic hypertriglyceridemia—each affected about 6% of survivors in both age groups.

Authors

Joseph L. Goldstein, Helmut G. Schrott, William R. Hazzard, Edwin L. Bierman, Arno G. Motulsky

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