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dc.contributor.authorZanoni, P.
dc.contributor.authorKhetarpal, S. A.
dc.contributor.authorLarach, D. B.
dc.contributor.authorHancock-Cerutti, W. F.
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dc.date.accessioned2017-04-26T23:56:30Z
dc.date.available2017-04-26T23:56:30Z
dc.date.issued2016-03-10
dc.identifier.citationRare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease 2016, 351 (6278):1166 Scienceen
dc.identifier.issn0036-8075
dc.identifier.issn1095-9203
dc.identifier.doi10.1126/science.aad3517
dc.identifier.urihttp://hdl.handle.net/10150/623258
dc.description.abstractScavenger receptor BI (SR-BI) is the major receptor for high-density lipoprotein (HDL) cholesterol (HDL-C). In humans, high amounts of HDL-C in plasma are associated with a lower risk of coronary heart disease (CHD). Mice that have depleted Scarb1 (SR-BI knockout mice) have markedly elevated HDL-C levels but, paradoxically, increased atherosclerosis. The impact of SR-BI on HDL metabolism and CHD risk in humans remains unclear. Through targeted sequencing of coding regions of lipid-modifying genes in 328 individuals with extremely high plasma HDL-C levels, we identified a homozygote for a loss-of-function variant, in which leucine replaces proline 376 (P376L), in SCARB1, the gene encoding SR-BI. The P376L variant impairs posttranslational processing of SR-BI and abrogates selective HDL cholesterol uptake in transfected cells, in hepatocyte-like cells derived from induced pluripotent stem cells from the homozygous subject, and in mice. Large population-based studies revealed that subjects who are heterozygous carriers of the P376L variant have significantly increased levels of plasma HDL-C. P376L carriers have a profound HDL-related phenotype and an increased risk of CHD (odds ratio = 1.79, which is statistically significant).
dc.language.isoenen
dc.publisherAmerican Association for the Advancement of Scienceen
dc.relation.urlhttp://www.sciencemag.org/cgi/doi/10.1126/science.aad3517en
dc.rightsCopyright © 2016, American Association for the Advancement of Scienceen
dc.titleRare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart diseaseen
dc.typeArticleen
dc.identifier.journalScienceen
dc.description.collectioninformationThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at repository@u.library.arizona.edu.en
dc.eprint.versionFinal accepted manuscripten
refterms.dateFOA2018-06-17T13:24:57Z
html.description.abstractScavenger receptor BI (SR-BI) is the major receptor for high-density lipoprotein (HDL) cholesterol (HDL-C). In humans, high amounts of HDL-C in plasma are associated with a lower risk of coronary heart disease (CHD). Mice that have depleted Scarb1 (SR-BI knockout mice) have markedly elevated HDL-C levels but, paradoxically, increased atherosclerosis. The impact of SR-BI on HDL metabolism and CHD risk in humans remains unclear. Through targeted sequencing of coding regions of lipid-modifying genes in 328 individuals with extremely high plasma HDL-C levels, we identified a homozygote for a loss-of-function variant, in which leucine replaces proline 376 (P376L), in SCARB1, the gene encoding SR-BI. The P376L variant impairs posttranslational processing of SR-BI and abrogates selective HDL cholesterol uptake in transfected cells, in hepatocyte-like cells derived from induced pluripotent stem cells from the homozygous subject, and in mice. Large population-based studies revealed that subjects who are heterozygous carriers of the P376L variant have significantly increased levels of plasma HDL-C. P376L carriers have a profound HDL-related phenotype and an increased risk of CHD (odds ratio = 1.79, which is statistically significant).


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