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Association of ATP-binding cassette transporter A1 gene polymorphisms with plasma lipid variability and coronary

Yuping Lu1, Yawen Liu1, Yong Li1

  • 1Department of Epidemiology and Biostatistics, School of Public Health, Jilin University Changchun 130021, China.

International Journal of Clinical and Experimental Pathology
|January 2, 2016
PubMed

Insights

This study found that variations in the ABCA1 gene are linked to changes in blood lipid levels and coronary heart disease (CHD) risk in the Chinese Han population. These ABCA1 gene variations may also influence how lipids affect CHD risk.

Area of Science:

  • Genetics
  • Cardiovascular Disease Epidemiology
  • Biochemistry

Background:

  • Apolipoprotein A1 (ApoA1) and ATP-binding cassette transporter A1 (ABCA1) are key regulators of cholesterol homeostasis.
  • ABCA1 gene polymorphisms have been implicated in lipid metabolism and cardiovascular disease risk.
  • Understanding the role of ABCA1 in coronary heart disease (CHD) is crucial for developing targeted prevention strategies.

Purpose of the Study:

  • To investigate the association between ABCA1 gene polymorphisms and plasma lipid levels in the Chinese Han population.
  • To determine the relationship between ABCA1 polymorphisms and the risk of developing coronary heart disease (CHD).
  • To explore potential interactions between ABCA1 polymorphisms, lipid profiles, and CHD risk.

Main Methods:

  • A case-control study involving 754 CHD patients and 760 controls from the Chinese Han population.
  • Genotyping of four single nucleotide polymorphisms (SNPs) in the ABCA1 gene: rs363717, rs4149339, rs4149338 (in 3'UTR), and rs2230808 (in exon 35).
  • Statistical analysis using SNPstats and SPSS software to assess associations and interactions.

Main Results:

  • SNP rs363717 showed significant associations with CHD risk under codominant and dominant models.
  • The nonsynonymous SNP rs2230808 was associated with elevated total cholesterol levels.
  • A GCC haplotype (rs363717, rs4149339, rs4149338) was linked to a reduced risk of CHD.
  • Interactions between ABCA1 SNPs and high triglyceride levels were found to increase CHD risk.

Conclusions:

  • ABCA1 gene polymorphisms play a significant role in modulating plasma lipid variability.
  • These polymorphisms are associated with altered coronary heart disease (CHD) risk in the studied population.
  • ABCA1 variations may modify the impact of plasma lipids on the development of CHD.
Abstract

Keywords:
ATP-binding cassette transporter A1 genecoronary heart diseaseplasma lipidssingle nucleotide polymorphism

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