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Genetic variations in HSPA8 gene associated with coronary heart disease risk in a Chinese population

Meian He1, Huan Guo, Xiaobo Yang

  • 1Department of Occupational and Environmental Health and the Ministry of Education Key Lab of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Plos One
|March 20, 2010
PubMed

Insights

Genetic variants in the HSPA8 gene are linked to coronary heart disease (CHD) risk. Specifically, the rs2236659 promoter SNP may decrease CHD susceptibility by influencing gene expression.

Area of Science:

  • Genetics
  • Cardiovascular Disease Research

Background:

  • Heat shock protein 70 (Hsp70) is implicated in coronary heart disease (CHD) progression.
  • Genetic variations in Hsp70 family genes, like HSPA8 (HSC70), may influence CHD development.

Purpose of the Study:

  • To investigate the association between specific genetic variants of the HSPA8 gene and CHD in the Han Chinese population.
  • To determine if HSPA8 gene variants contribute to CHD susceptibility.

Main Methods:

  • Sequencing of the HSPA8 gene in 60 unrelated individuals identified 23 genetic variants.
  • Genotyping of four tag single nucleotide polymorphisms (tagSNPs) including rs2236659, rs2276077, rs10892958, and rs1461496 in 2006 subjects (1003 CHD cases, 1003 controls).
  • Luciferase reporter assays were used to evaluate the functional impact of significant single nucleotide polymorphisms (SNPs).

Main Results:

  • The promoter SNP rs2236659 was associated with CHD susceptibility.
  • Carriers of the 'C' allele of rs2236659 exhibited a reduced risk of CHD (OR=0.78, P=0.033).
  • Haplotype analysis revealed that the GCGC haplotype was associated with lower CHD risk (OR=0.78, P=0.006).
  • Luciferase assays demonstrated that the 'C' allele of rs2236659 increased reporter gene expression by 37-40% compared to the 'T' allele.

Conclusions:

  • Genetic variants in the HSPA8 gene, particularly the promoter SNP rs2236659, are associated with CHD susceptibility.
  • These findings suggest that HSPA8 gene variants influence CHD risk by affecting the gene's expression levels.
Abstract

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