Gene polymorphisms affecting HDL-cholesterol levels in the normolipidemic population

Area of Science:

• Genetics
• Cardiovascular Disease
• Lipid Metabolism

Background:

• High-density lipoprotein cholesterol (HDL-C) is inversely associated with ischemic heart disease risk.
• Numerous genes influencing HDL-C levels have been identified, but findings are often contradictory.
• The impact of specific gene polymorphisms on HDL-C in normolipidemic individuals requires further investigation.

Purpose of the Study:

• To investigate the influence of common gene polymorphisms in apolipoprotein E, cholesterol ester transfer protein (CETP), and apolipoprotein A-IV on HDL-C levels.
• To identify potential genetic determinants of HDL-C variability in a normolipidemic population.

Main Methods:

• Analysis of 200 normolipidemic individuals undergoing routine check-ups.
• Genotyping for polymorphisms in apolipoprotein E, CETP (TaqIB), and apoA-IV (A347T).
• Comparison of HDL-C levels based on the presence or absence of specific alleles.

Main Results:

• No single polymorphism individually affected HDL-C levels in the study cohort.
• A specific combination of alleles (apo E E4, CETP B1, and apoA-IV T) was associated with significantly lower HDL-C levels (0.99 ± 0.33 mmol/L) compared to individuals without this combination (1.28 ± 0.35 mmol/L, p = 0.04).
• This genetic combination was found in 28 participants.

Conclusions:

• A subgroup of normolipidemic individuals with genetically determined low HDL-C levels was identified.
• The findings suggest that combined genetic variability in key lipid metabolism genes can contribute to reduced HDL-C.
• Further research is warranted to elucidate the underlying mechanisms of this observed association.