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Journal of Lipid Research, Vol. 44, 2030-2038, November 2003
Copyright © 2003 by American Society for Biochemistry and Molecular Biology

Review

Genetic regulation of cholesterol absorption and plasma plant sterol levels

Ephraim Sehayek¹

Laboratory of Biochemical Genetics and Metabolism, The Rockefeller University, 1230 York Avenue, New York, NY 10021

¹ To whom correspondence should be addressed. e-mail: sehayee{at}rockefeller.edu

The molecular basis of the processes that control two closely related traits, the absorption of cholesterol from the intestines and plasma plant sterol levels, are only partially understood. The discovery that mutations in two novel hemitransporters, ATP binding cassette transporter G5 (ABCG5) and ABCG8, underlie a rare inborn error in plant sterol metabolism, ß-sitosterolemia, represents a major breakthrough in this field. More recently, genetic studies in the mouse that mapped loci in linkage with cholesterol absorption and plasma plant sterol levels and studies in humans that examined the relationship of plasma plant sterol levels to sequence variation in the ABCG5/ABCG8 locus suggested the involvement of other genes. Moreover, studies in ß-sitosterolemic patients, in ABCG5/ABCG8-targeted animals, and on a newly developed cholesterol absorption inhibitor, ezetimibe, suggest commonalities and differences in the regulation of the two traits.

This review summarizes the evidence for genetic control of cholesterol absorption and plasma plant sterol levels, presents the evidence for commonalities and differences between the two traits, and discusses recent developments and future perspectives in this field.

Abbreviations: ABCA1, ATP binding cassette transporter A1; LOD, logarithm of odds

Supplementary key words dietary sterols • phytosterolemia • quantitative trait loci

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