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Published on: October 12, 2017
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.
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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