PMID: 6402711Feb 24, 1983Paper

An inherited polymorphism in the human apolipoprotein A-I gene locus related to the development of atherosclerosis

Nature
S K KarathanasisJ L Breslow

Abstract

Epidemiological studies have identified elevated low density lipoprotein (LDL) and diminished high density lipoprotein (HDL) cholesterol levels as risk factors for coronary artery disease. The major protein component of HDL is apoprotein A-I (apo A-I), a polypeptide of 243 amino acids of known primary amino acid sequence. This apoprotein serves as a cofactor for the plasma lecithin-cholesterol acyltransferase (LCAT) enzyme responsible for the formation of most cholesteryl esters in plasma, and also promotes cholesterol efflux from cells. The primary translation product of apo A-I contains both a pre and a pro segment, and post-translational processing of apo A-I may be involved in the formation of the functional plasma apo A-I isoproteins. Defective apo A-I processing may be the underlying problem in Tangier disease, in which patients have low plasma HDL and apo A-I levels despite normal apo A-I synthesis. Patients have been reported with conditions distinct from Tangier disease in whom severe deficiency or absence of apo A-I has been associated with very low HDL levels and severe coronary artery disease. We have now examined the apo A-I gene in two such patients and their first degree relatives. These patients have been report...Continue Reading

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Citations

Apr 1, 1988·Human Genetics·D N Cooper, J F Clayton
May 1, 1986·Human Genetics·D N Cooper, J Schmidtke
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Oct 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·S K KarathanasisJ L Breslow
Dec 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·M L SneadH C Slavkin
Jan 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·S W Law, H B Brewer
May 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·C L JacksonJ L Breslow
Oct 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·S K Karathanasis
Mar 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·M W Berchtold, A R Means
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