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Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

Authors: Zanoni, Paolo; Khetarpal, Sumeet; Larach, Daniel; Hancock-Cerutti, William; Millar, John; Cuchel, Marina; Derohannessian, Stephanie; +193 Authors

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

Abstract

A scavenger that protects the heart Coronary heart disease is a tale of two forms of plasma cholesterol. In contrast to the well-established effects of “bad” cholesterol (LDL-C), the role of “good” cholesterol (HDL-C) is mysterious. Elevated HDL-C correlates with a lower risk of heart disease, yet drugs that raise HDL-C levels do not reduce risk. Zanoni et al. found that some people with exceptionally high levels of HDL-C carry a rare sequence variant in the gene encoding the major HDL-C receptor, scavenger receptor BI. This variant destroys the receptor's ability to take up HDL-C. Interestingly, people with this variant have a higher risk of heart disease despite having high levels of HDL-C. Science , this issue p. 1166

Keywords

Netherlands Twin Register (NTR), Male, Risk, Heterozygote, HDL, Scavenger Receptors, Proline, DNA Mutational Analysis, Coronary Disease, Research Support, N.I.H., Aged; Amino Acid Substitution; Animals; Cholesterol, HDL/blood; Coronary Disease/blood; Coronary Disease/genetics; DNA Mutational Analysis; Female; Genetic Variation; Heterozygote; Homozygote; Humans; Leucine/genetics; Male; Mice; Middle Aged; Proline/genetics; Protein Processing, Post-Translational; Risk; Scavenger Receptors, Class B/genetics; Scavenger Receptors, Class B/metabolism, scavenger receptor, Mice, Leucine, Journal Article, Animals, Humans, Non-U.S. Gov't, Protein Processing, increased atherosclerosis, Aged, levels of plasma, Cholesterol, HDL, Homozygote, Post-Translational, Extramural, Genetic Variation, Middle Aged, Scavenger Receptors, Class B, [SDV] Life Sciences [q-bio], Cholesterol, Amino Acid Substitution, Female, Class B, Protein Processing, Post-Translational

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
501
Top 0.1%
Top 1%
Top 0.1%
Green
bronze