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Genes associated with low serum high-density lipoprotein cholesterol

Alireza Ahmadzadeh1, Fereidoun Azizi2

  • 1Department of Molecular Medicine, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Archives of Iranian Medicine
|June 12, 2014
PubMed

Insights

Genetic defects significantly impact high-density lipoprotein cholesterol (HDL-C) levels, increasing the risk of coronary artery disease (CAD). Understanding these genetic causes is crucial for managing atherosclerosis and preventing heart disease.

Area of Science:

  • Cardiovascular Genetics
  • Lipid Metabolism
  • Molecular Biology

Background:

  • Atherosclerosis, primarily causing ischemic heart disease (IHD), is a leading global cause of death.
  • Altered serum lipid levels, particularly low high-density lipoprotein cholesterol (HDL-C), are major risk factors for coronary artery disease (CAD).
  • Plasma HDL-C levels exhibit a strong hereditary basis, suggesting a significant role for genetics.

Purpose of the Study:

  • To review recent data on genetic defects that reduce HDL-C levels.
  • To identify genes associated with low HDL-C disorder.
  • To explore the genetic underpinnings of low HDL-C syndrome and its link to CAD risk.

Main Methods:

  • Comprehensive review of medical literature from September 1990 to January 2013.
  • Focused search on genetic causes of low HDL-C levels.
  • Analysis of studies investigating gene variations linked to reduced HDL-C status.

Main Results:

  • Genetic defects in ABCA1, APOA1, lecithin cholesteryl acyl transferase, LPL, and ANGPTL3 are associated with low HDL-C.
  • Metabolic disorders like sphingomyelin phosphodiesterase 1 and glucocerebrosidase are implicated in low HDL-C syndromes.
  • Molecular variations in genes including ABCA1, APOA1, TRIB1, ApoE, LPL, WWOX, and HL are linked to reduced HDL-C.

Conclusions:

  • Low HDL-C syndrome possesses a strong genetic basis.
  • Genetic factors play a critical role in determining HDL-C levels.
  • Understanding these genetic defects is essential for assessing CAD risk and developing targeted therapies.

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