Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.

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

doi:10.1172/JCI3963

Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9052, USA. spatel@crcdec.swmed.edu

Find articles by Patel, S. in: JCI | PubMed | Google Scholar

Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9052, USA. spatel@crcdec.swmed.edu

Find articles by Salen, G. in: JCI | PubMed | Google Scholar

Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9052, USA. spatel@crcdec.swmed.edu

Find articles by Hidaka, H. in: JCI | PubMed | Google Scholar

Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9052, USA. spatel@crcdec.swmed.edu

Find articles by Kwiterovich, P. in: JCI | PubMed | Google Scholar

Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9052, USA. spatel@crcdec.swmed.edu

Find articles by Stalenhoef, A. in: JCI | PubMed | Google Scholar

Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9052, USA. spatel@crcdec.swmed.edu

Find articles by Miettinen, T. in: JCI | PubMed | Google Scholar

Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9052, USA. spatel@crcdec.swmed.edu

Find articles by Grundy, S. in: JCI | PubMed | Google Scholar

Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9052, USA. spatel@crcdec.swmed.edu

Find articles by Lee, M. in: JCI | PubMed | Google Scholar

Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9052, USA. spatel@crcdec.swmed.edu

Find articles by Rubenstein, J. in: JCI | PubMed | Google Scholar

Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9052, USA. spatel@crcdec.swmed.edu

Find articles by Polymeropoulos, M. in: JCI | PubMed | Google Scholar

Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9052, USA. spatel@crcdec.swmed.edu

Find articles by Brownstein, M. in: JCI | PubMed | Google Scholar

Published in Volume 102, Issue 5 on September 1, 1998
J Clin Invest. 1998;102(5):1041–1044. https://doi.org/10.1172/JCI3963.
© 1998 The American Society for Clinical Investigation

Published September 1, 1998 - Version history

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).

Version 1 (September 1, 1998): No description

Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.

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, and M J Brownstein

Article tools

Metrics

Go to

Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.

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, and M J Brownstein

Article tools

Metrics

Go to

Sign up for email alerts