Copyright © 2004 by the Johns Hopkins Bloomberg School of Public Health
HUMAN GENOME EPIDEMIOLOGY (HuGE) REVIEW |
Familial Hypercholesterolemia and Coronary Heart Disease: A HuGE Association Review
1 Institute for Public Health Genetics and Department of Epidemiology, School of Public Health and Community Medicine, University of Washington, Seattle, WA.
2 Public Health Genetics Unit, Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom.
3 Center for Genetics of Cardiovascular Disorders, British Heart Foundation Laboratories, Department of Medicine, Royal Free and University College London Medical School, London, United Kingdom.
Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been shown to be associated with increased coronary heart disease and premature death. Mutations in the low density lipoprotein receptor gene (LDLR) can result in the FH phenotype, and there is evidence that receptor-negative mutations result in a more severe phenotype than do receptor-defective mutations. Mutations in the apolipoprotein B-100 gene (APOB) can result in a phenotype that is clinically indistinguishable from familial hypercholesterolemia, and mutations in this gene have also been shown to be associated with coronary heart disease. Preliminary research indicates that the FH phenotype is influenced by other genetic and environmental factors; however, it is not clear if these are synergistic interactions or simply additive effects.
APOB; coronary disease; epidemiology; genetics; hypercholesterolemia, familial; LDLR; receptors, LDL
Abbreviations: Abbreviations: CI, confidence interval; FH, familial hypercholesterolemia; LDL, low density lipoprotein; SMR, standardized mortality ratio.
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