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

Shailendra B. Patel, Gerald Salen, Hideki Hidaka, Peter O. Kwiterovich, Anton F H Stalenhoef, Tatu A. Miettinen, Scott M Grundy, Mi Hye Lee, Jeffrey S. Runenstein, Mihael H. Polymeropoulos, Michael J. Brownstein

Research output: Contribution to journalArticle

140 Citations (Scopus)

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, θ = 0.0).

Original languageEnglish (US)
Pages (from-to)1041-1044
Number of pages4
JournalJournal of Clinical Investigation
Volume102
Issue number5
StatePublished - Sep 1 1998

Fingerprint

Dietary Cholesterol
Chromosome Mapping
Phytosterols
Aptitude
Chromosomes
Sterols
Genetic Databases
Xanthomatosis
Liver Failure
Bile
Tendons
Microsatellite Repeats
Intestines
Coronary Artery Disease
Atherosclerosis
Cholesterol
Genes
Sitosterolemia

Keywords

  • Chromosomal localization
  • Genetics
  • Linkage analyses
  • Sitosterolemia

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Patel, S. B., Salen, G., Hidaka, H., Kwiterovich, P. O., Stalenhoef, A. F. H., Miettinen, T. A., ... Brownstein, M. J. (1998). Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. Journal of Clinical Investigation, 102(5), 1041-1044.

Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. / Patel, Shailendra B.; Salen, Gerald; Hidaka, Hideki; Kwiterovich, Peter O.; Stalenhoef, Anton F H; Miettinen, Tatu A.; Grundy, Scott M; Lee, Mi Hye; Runenstein, Jeffrey S.; Polymeropoulos, Mihael H.; Brownstein, Michael J.

In: Journal of Clinical Investigation, Vol. 102, No. 5, 01.09.1998, p. 1041-1044.

Research output: Contribution to journalArticle

Patel, SB, Salen, G, Hidaka, H, Kwiterovich, PO, Stalenhoef, AFH, Miettinen, TA, Grundy, SM, Lee, MH, Runenstein, JS, Polymeropoulos, MH & Brownstein, MJ 1998, 'Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21', Journal of Clinical Investigation, vol. 102, no. 5, pp. 1041-1044.
Patel SB, Salen G, Hidaka H, Kwiterovich PO, Stalenhoef AFH, Miettinen TA et al. Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. Journal of Clinical Investigation. 1998 Sep 1;102(5):1041-1044.
Patel, Shailendra B. ; Salen, Gerald ; Hidaka, Hideki ; Kwiterovich, Peter O. ; Stalenhoef, Anton F H ; Miettinen, Tatu A. ; Grundy, Scott M ; Lee, Mi Hye ; Runenstein, Jeffrey S. ; Polymeropoulos, Mihael H. ; Brownstein, Michael J. / Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. In: Journal of Clinical Investigation. 1998 ; Vol. 102, No. 5. pp. 1041-1044.
@article{71ec4d9b186f46a199d4afaf02f39619,
title = "Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21",
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, θ = 0.0).",
keywords = "Chromosomal localization, Genetics, Linkage analyses, Sitosterolemia",
author = "Patel, {Shailendra B.} and Gerald Salen and Hideki Hidaka and Kwiterovich, {Peter O.} and Stalenhoef, {Anton F H} and Miettinen, {Tatu A.} and Grundy, {Scott M} and Lee, {Mi Hye} and Runenstein, {Jeffrey S.} and Polymeropoulos, {Mihael H.} and Brownstein, {Michael J.}",
year = "1998",
month = "9",
day = "1",
language = "English (US)",
volume = "102",
pages = "1041--1044",
journal = "Journal of Clinical Investigation",
issn = "0021-9738",
publisher = "The American Society for Clinical Investigation",
number = "5",

}

TY - JOUR

T1 - Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21

AU - Patel, Shailendra B.

AU - Salen, Gerald

AU - Hidaka, Hideki

AU - Kwiterovich, Peter O.

AU - Stalenhoef, Anton F H

AU - Miettinen, Tatu A.

AU - Grundy, Scott M

AU - Lee, Mi Hye

AU - Runenstein, Jeffrey S.

AU - Polymeropoulos, Mihael H.

AU - Brownstein, Michael J.

PY - 1998/9/1

Y1 - 1998/9/1

N2 - 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, θ = 0.0).

AB - 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, θ = 0.0).

KW - Chromosomal localization

KW - Genetics

KW - Linkage analyses

KW - Sitosterolemia

UR - http://www.scopus.com/inward/record.url?scp=0032167658&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032167658&partnerID=8YFLogxK

M3 - Article

VL - 102

SP - 1041

EP - 1044

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

SN - 0021-9738

IS - 5

ER -