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Novel polymorphisms associated with hyperalphalipoproteinemia and apparent cardioprotection

Connor P Oates1, Darya Koenig1, Jeffrey Rhyne1

  • 1Division of Cardiovascular Medicine, Department of Medicine, University of Maryland School of Medicine and the Veterans Affairs Medical Center, Baltimore, MD, USA.

Journal of Clinical Lipidology
|December 5, 2017
PubMed

Insights

Researchers identified novel genetic variants linked to high-density lipoprotein cholesterol (HDL-C) in individuals without coronary heart disease (CHD). These findings may offer new therapeutic targets for reducing CHD risk.

Area of Science:

  • Genetics
  • Cardiovascular Science
  • Lipid Metabolism

Background:

  • Hyperalphalipoproteinemia (HALP) is inversely correlated with coronary heart disease (CHD).
  • Genetic variants linked to high serum levels of high-density lipoprotein cholesterol (HDL-C) have not been definitively proven cardioprotective.
  • Understanding genetic underpinnings of HALP is crucial for cardiovascular risk assessment.

Purpose of the Study:

  • To identify novel genetic variants associated with HALP.
  • To explore potential links between these variants and reduced risk of CHD.
  • To investigate the functional impact of identified genetic polymorphisms.

Main Methods:

  • Analysis of exome sequencing data, HDL-C, and triglyceride levels in 1645 subjects from diverse cohorts.
  • Identification of novel nonsynonymous single-nucleotide polymorphisms (nsSNPs) in individuals with primary HALP.
  • Utilized PolyPhen-2 and Combined Annotation Dependent Depletion for predictive effect estimation of nsSNPs.

Main Results:

  • Rare, deleterious polymorphisms were identified in genes including UGT1A3, PLLP, PLEKHH1, ANK2, DIS3L, ACACB, and LRP4 in subjects with HALP.
  • A novel polymorphism, rs376849274, was found in OSBPL1A.
  • These candidate genes are largely involved in lipid metabolism, and affected individuals lacked CHD history despite risk factors.

Conclusions:

  • Novel functional polymorphisms in eight candidate genes are associated with HALP in the absence of CHD.
  • These findings suggest potential genetic contributors to cardiovascular health in HALP individuals.
  • Further research is warranted to explore these genes as therapeutic targets for CHD risk reduction.
Abstract

Keywords:
CADExome sequencingHALPHDL-CHyperalphacardioprotection

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