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Cited by 457

The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.

Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype

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Pullinger, Clive R., Eng, Celeste, Salen, Gerald, Shefer, Sarah, Batta, Ashok K., Erickson, Sandra K., Verhagen, Andrea, Rivera, Christopher R., Mulvihill, Sean J., Malloy, Mary J., Kane, John P.·2002·Journal of Clinical Investigation
DOI 10.1172/jci0215387
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Abstract

Bile acid synthesis plays a critical role in the maintenance of mammalian cholesterol homeostasis.The CYP7A1 gene encodes the enzyme cholesterol 7α-hydroxylase, which catalyzes the initial step in cholesterol catabolism and bile acid synthesis.We report here a new metabolic disorder presenting with hyperlipidemia caused by a homozygous deletion mutation in CYP7A1.The mutation leads to a frameshift (L413fsX414) that results in loss of the active site and enzyme function.High levels of LDL cholesterol were seen in three homozygous subjects.Analysis of a liver biopsy and stool from one of these subjects revealed double the normal hepatic cholesterol content, a markedly deficient rate of bile acid excretion, and evidence for upregulation of the alternative bile acid pathway.Two male subjects studied had hypertriglyceridemia and premature gallstone disease, and their LDL cholesterol levels were noticeably resistant to 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors.One subject also had premature coronary and peripheral vascular disease.Study of the kindred, which is of English and Celtic background, revealed that individuals heterozygous for the mutation are also hyperlipidemic, indicating that this is a codominant disorder.

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Metadata

Authors
Pullinger, C. R., Eng, C., Salen, G., Shefer, S., Batta, A. K., Erickson, S. K., Verhagen, A., Rivera, C. R., Mulvihill, S. J., Malloy, M. J., & Kane, J. P.
Venue
Journal of Clinical Investigation
Publisher
American Society for Clinical Investigation
Published
2002-07-01
Volume
110
Issue
1
Pages
109-117
ISSN
0021-9738 (ISSN-L)
DOI
10.1172/jci0215387
OpenAlex
W4255764447
Cited by
457
References
1
FWCI
18.15
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. https://app.cochat.ai/papers/10.1172/jci0215387
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Pullinger, C. R., Eng, C., Salen, G., Shefer, S., Batta, A. K., Erickson, S. K., Verhagen, A., Rivera, C. R., Mulvihill, S. J., Malloy, M. J., & Kane, J. P. (2002). Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. Journal of Clinical Investigation. https://doi.org/10.1172/jci0215387

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