Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease
pmid: 26965621
pmc: PMC4889017
Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease
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
- University of Insubria Italy
- Pitié-Salpêtrière Hospital France
- Centre Hospitalier Universitaire de Toulouse France
- Ludwig-Maximilians-Universität München Germany
- Helmholtz Zentrum München Germany
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
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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