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Genetic variation of PLTP modulates lipoprotein profiles in hypoalphalipoproteinemia

Bradley E Aouizerat1, Mary B Engler, Yanina Natanzon

  • 1Department of Physiological Nursing, School of Nursing, University of California San Francisco, San Francisco, CA 94143, USA. bradley.aouizerat@nursing.ucsf.edu

Journal of Lipid Research
|January 3, 2006
PubMed

Insights

Genetic variations in phospholipid transfer protein (PLTP) influence high-density lipoprotein cholesterol (HDL-C) levels and impact HDL metabolism disorders. PLTP gene anomalies are linked to hypoalphalipoproteinemia.

Area of Science:

  • Lipid metabolism
  • Genetics
  • Molecular biology

Background:

  • Phospholipid transfer protein (PLTP) is crucial for lipoprotein metabolism, including high-density lipoprotein (HDL) remodeling and reverse cholesterol transport.
  • Sequence anomalies in the PLTP gene may contribute to disorders of HDL metabolism, such as hypoalphalipoproteinemia.

Purpose of the Study:

  • To investigate sequence variations in the human PLTP gene.
  • To evaluate the association between PLTP gene variations and plasma lipid parameters, particularly in subjects with hypoalphalipoproteinemia.

Main Methods:

  • Screening of the human PLTP gene for sequence anomalies using DNA melting analysis in hypoalphalipoproteinemia patients and controls.
  • Association analysis with plasma lipid parameters.
  • In vitro activity assay for identified mutations.

Main Results:

  • Identified 18 sequence variations in the PLTP gene, including four missense mutations and a novel polymorphism (c.-34G > C).
  • The c.-34G > C minor allele was associated with higher HDL-C in healthy controls and was less frequent in hypoalphalipoproteinemia subjects.
  • Linear regression predicted that the rare allele of c.-34G > C decreases triglycerides and increases HDL-C.
  • Decreased PLTP activity was observed for the p.R235W mutation in vitro.

Conclusions:

  • PLTP gene variations are significant determinants of plasma lipoprotein levels.
  • PLTP gene variations affect disorders of HDL metabolism and may play a role in hypoalphalipoproteinemia.

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