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Citations to this article

Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.
S B Patel, … , M H Polymeropoulos, M J Brownstein
S B Patel, … , M H Polymeropoulos, M J Brownstein
Published September 1, 1998
Citation Information: J Clin Invest. 1998;102(5):1041-1044. https://doi.org/10.1172/JCI3963.
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Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.

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Abstract

The molecular mechanisms regulating the amount of dietary cholesterol retained in the body as well as the body's ability to selectively exclude other dietary sterols are poorly understood. Studies of the rare autosomal recessively inherited disease sitosterolemia (OMIM 210250) may shed some light on these processes. Patients suffering from this disease appear to hyperabsorb both cholesterol and plant sterols from the intestine. Additionally, there is failure of the liver's ability to preferentially and rapidly excrete these non-cholesterol sterols into bile. Consequently, people who suffer from this disease have very elevated plasma plant sterol levels and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease. Identification of this gene defect may therefore throw light on regulation of net dietary cholesterol absorption and lead to an advancement in the management of this important cardiovascular risk factor. By studying 10 well-characterized families with this disorder, we have localized the genetic defect to chromosome 2p21, between microsatellite markers D2S1788 and D2S1352 (maximum lodscore 4.49, theta = 0.0).

Authors

S B Patel, G Salen, H Hidaka, P O Kwiterovich, A F Stalenhoef, T A Miettinen, S M Grundy, M H Lee, J S Rubenstein, M H Polymeropoulos, M J Brownstein

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Current Opinion in Lipidology 2001
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Journal of the Science of Food and Agriculture 2000
Tuberous Xanthomas in Sitosterolemia
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Pediatric Dermatology 2000
3-Hydroxy-3-methylglutaryl-coenzyme A reductase activity is inhibited by cholesterol and up-regulated by sitosterol in sitosterolemic fibroblasts
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Journal of Laboratory and Clinical Medicine 2000
Intestinal absorption of cholesterol is mediated by a saturable, inhibitable transporter
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Biochimica et Biophysica Acta 2000
Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in Adjacent ABC Transporters
KE Berge, H Tian, GA Graf, L Yu, NV Grishin, J Schultz, P Kwiterovich, B Shan, R Barnes, HH Hobbs
Science 2000
Noncholesterol Sterols and Cholesterol Lowering by Long-Term Simvastatin Treatment in Coronary Patients: Relation to Basal Serum Cholestanol
TA Miettinen, TE Strandberg, H Gylling
Arteriosclerosis, thrombosis, and vascular biology 2000
An Absorbing Study of Cholesterol
H Allayee, BA Laffitte, AJ Lusis
Science 2000
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Journal of lipid research 2000
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PA Dawson, LL Rudel
Current Opinion in Lipidology 1999
Clinical lipidology at the end of the millennium
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Current Opinion in Lipidology 1999
ROLE OF THE ENTEROHEPATIC CIRCULATION OF BILE SALTS IN LIPOPROTEIN METABOLISM
AD Cooper
Gastroenterology Clinics of North America 1999
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Current Opinion in Gastroenterology 1999
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New England Journal of Medicine 1998

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