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Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program
Author(s) -
Yan V. Sun,
Scott M. Damrauer,
Qin Hui,
Themistocles L. Assimes,
YukLam Ho,
Pradeep Natarajan,
Derek Klarin,
Jie Huang,
Julie A. Lynch,
Scott L. DuVall,
Saiju Pyarajan,
Jacqueline Honerlaw,
J. Michael Gaziano,
Kelly Cho,
Daniel J. Rader,
Christopher J. O’Donnell,
Philip S. Tsao,
Peter W.F. Wilson,
Rachel Ramoni,
Jim Breeling,
Kyong–Mi Chang,
Grant D. Huang,
Sumitra Muralidhar,
Jennifer Moser,
Stacey B. Whitbourne,
Jessica V. Brewer,
John Concato,
Stuart Warren,
Dean P. Argyres,
Brady Stephens,
Mary T. Brophy,
Donald E. Humphries,
Nhan Do,
Shahpoor Shayan,
XuanMai T. Nguyen,
Elizabeth R. Hauser,
Hongyu Zhao,
Peter Wilson,
Rachel McArdle,
Louis J. Dell’Italia,
John B. Harley,
Jeff Whittle,
Jean C. Beckham,
John M. Wells,
Salvador Gutierrez,
Gretchen Gibson,
Laurence S. Kaminsky,
Gerardo Villareal,
Scott Kinlay,
Junzhe Xu,
Mark B. Hamner,
Kathlyn Sue Haddock,
Sujata Bhushan,
Pran Iruvanti,
Michael Godschalk,
Zuhair K. Ballas,
Malcolm Buford,
Stephen Mastorides,
Jon B. Klein,
Nora Ratcliffe,
Hermes Flórez,
Alan C. Swann,
Maureen Murdoch,
Peruvemba Sriram,
Shing Shing Yeh,
Ronald G. Washburn,
Darshana Jhala,
Samuel M. Aguayo,
David Cohen,
Satish Sharma,
John T. Callaghan,
Kris Ann Oursler,
Mary A. Whooley,
Sunil K. Ahuja,
Amparo Gutierrez,
Ronald Schifman,
Jennifer Greco,
Michael Rauchman,
Richard J. Servatius,
Mary E. Oehlert,
Agnes Wallbom,
Ronald Fernando,
Timothy R. Morgan,
Todd Stapley,
Scott E. Sherman,
Gwenevere Anderson,
Elif Sonel,
Edward J. Boyko,
Laurence Meyer,
Samir Gupta,
Joseph Fayad,
Adriana M. Hung,
Jack Lichy,
Robin A. Hurley,
R. Brooks Robey,
Rob Striker
Publication year - 2018
Publication title -
circulation genomic and precision medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.801
H-Index - 79
ISSN - 2574-8300
DOI - 10.1161/circgen.118.002192
Subject(s) - familial hypercholesterolemia , pcsk9 , medicine , coronary artery disease , odds ratio , apolipoprotein b , population , cholesterol , disease , ldl receptor , lipoprotein , environmental health
Familial hypercholesterolemia (FH) is characterized by inherited high levels of low-density lipoprotein cholesterol (LDL-C) and premature coronary heart disease (CHD). Over a thousand low-frequency variants in LDLR, APOB and PCSK9 have been implicated in FH but few have been examined at the population level. We aim to estimate the phenotypic effects of a subset of FH variants on LDL-C and clinical outcomes among 331,107 multi-ethnic participants.

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