Sequencing and functional characterization of SCARB1 variants in subjects with extreme HDL cholesterol levels.

• SCARB1 was sequenced in 96 extreme-high-density lipoprotein cholesterol (HDL-C) subjects; 25 variants identified. • Novel c.-177G>T promoter and missense p.(Thr118Ser) were described. • p.(Thr118Ser) and p.(Thr378Met) co-segregate with high HDL-C. • p.(Thr378Met) variant impairs SR-B1–mediated HDL...

Full description

Bibliographic Details

Published in:	Journal of Clinical Lipidology Vol. 20; no. 2; pp. 389 - 402
Main Authors:	Gracia-Rubio, Irene, Benito-Vicente, Asier, Lamiquiz-Moneo, Itziar, Bea, Ana María, Marco-Benedí, Victoria, Cabrera-Antón, Endika, Martín, César, Civeira, Fernando, Cenarro, Ana
Format:	Journal Article
Published:	Elsevier B.V. Feb2026
Online Access:	View this record in EBSCOhost