Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

Amit V. Khera, MD, Hong-Hee Won, PhD, Gina M. Peloso, PhD, Kim S. Lawson, MS, Traci M. Bartz, MS, Xuan Deng, MSc, Elisabeth M. van Leeuwen, Pradeep Natarajan, MD, MMSc, Connor A. Emdin, HBSc, Alexander G. Bick, BS, Alanna C. Morrison, PhD, Jennifer A. Brody, BA, Namrata Gupta, PhD, Akihiro Nomura, MD, Thorsten Kessler, MD, Stefano Duga, PhD, Joshua C. Bis, PhD, Cornelia M. van Duijn, PhD, L. Adrienne Cupples, PhD, Bruce Psaty, MD, PhD, Daniel J. Rader, MD, John Danesh, FMedSci, Heribert Schunkert, MD, Ruth McPherson, MD, Martin Farrall, FRCPath, Hugh Watkins, MD, PhD, Eric Lander, PhD, James G. Wilson, MD, Adolfo Correa, MD, PhD, Eric Boerwinkle, PhD, Piera Angelica Merlini, MD, Diego Ardissino, MD, Danish Saleheen, MB, BS, PhD, Stacey Gabriel, PhD, Sekar Kathiresan, MD

Among participants with LDL cholesterol $190 mg/dl, gene sequencing identified an FH mutation in <2%. However, for any observed LDL cholesterol, FH mutation carriers had substantially increased risk for CAD.

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