Predicting proprotein convertase subtilisin kexin type-9 loss of function mutations using plasma PCSK9 concentration.

Journal: Journal of clinical lipidology
PMID: 28391911

Abstract

BACKGROUND: Low plasma proprotein convertase subtilisin kexin type-9 (PCSK9) concentration has been associated with loss of function (LOF) PCSK9 mutations in several studies. However, the current standard for detection of these LOF mutations is through gene sequencing. Gene sequencing is labor intensive and expensive. Identifying a simple test to help predict PCSK9 LOF mutations would help to better target subjects requiring gene sequencing.

Authors

  • Eric Wanneh
    Nutrition, Metabolism and Atherosclerosis Clinic, Institut de Recherches Cliniques de Montréal, Québec, Canada. Electronic address: ewanneh@gmail.com.
  • Grisel Luna
    Nutrition, Metabolism and Atherosclerosis Clinic, Institut de Recherches Cliniques de Montréal, Québec, Canada.
  • Robert Dufour
    Nutrition, Metabolism and Atherosclerosis Clinic, Institut de Recherches Cliniques de Montréal, Québec, Canada; Department of Nutrition, Université de Montréal, Québec, Canada.
  • Alexis Baass
    Nutrition, Metabolism and Atherosclerosis Clinic, Institut de Recherches Cliniques de Montréal, Québec, Canada; Division of Experimental Medicine, Department of Medicine, McGill University, Québec, Canada.

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