The value of HDL genetics.

Area of Science:

• Genetics
• Lipid Metabolism
• Cardiovascular Disease

Background:

• High-density lipoprotein (HDL) plays a crucial role in lipid metabolism and reverse cholesterol transport.
• Hereditary disorders affecting HDL metabolism offer insights into its complex pathways.
• Genetic studies in both humans and mice are vital for understanding HDL biology.

Purpose of the Study:

• To review studies on hereditary disorders of HDL metabolism.
• To examine HDL genetics in mice.
• To identify potential therapeutic targets for raising HDL cholesterol (HDLc) and reducing atherosclerosis.

Main Methods:

• Literature review of studies on HDL metabolism and genetics.
• Analysis of genetic association studies, particularly for 'murine genes' in human HDL pathways.
• Inclusion of recent findings on newly proposed HDL genes.

Main Results:

• Eleven key genes involved in HDL synthesis, maturation, conversion, and catabolism have been identified.
• Five human genes (APOA1, LCAT, ABCA1, LIPC, CETP) and six mouse genes (SCARB1, ABCG1, ATPB5, PLTP, LIPG, APOM) are highlighted.
• Six novel candidate HDL genes (VNN1, GALNT2, MMAB/MVK, CTalpha, BMP-1, SIRT1) are discussed.

Conclusions:

• This review summarizes current literature on HDL genetics.
• New genetic insights enhance the understanding of HDL biology.
• Identified genetic factors may lead to novel pharmacological targets for HDL modulation.