Article
Sequencing and functional characterization of SCARB1 variants in subjects with extreme HDL cholesterol levels.
Journal of clinical lipidology - 1 Feb 2026
Gracia-Rubio Irene, Benito-Vicente Asier, Lamiquiz-Moneo Itziar, Bea Ana María, Marco-Benedí Victoria, Cabrera-Antón Endika, Martín César, Civeira Fernando, Cenarro Ana
Abstract excerpt
BACKGROUND: Rare variants in SCARB1, which encodes the high-density lipoprotein (HDL) receptor scavenger receptor class B type 1 (SR-B1), are hypothesized to drive unexplained extreme levels of plasma HDL cholesterol (HDL-C). OBJECTIVE: We sequenced and phenotypically correlated SCARB1 by analyzing individuals with extreme HDL-C levels and characterizing the functional consequences of rare identified variants....
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