Related Experiment Video

Updated: Jun 24, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Functional SNPs in HSPA1A gene predict risk of coronary heart disease

Meian He1, Huan Guo, Xiaobo Yang

  • 1Institute of Occupational Medicine 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, Hubei, China.

Plos One
|April 1, 2009
PubMed

Insights

Genetic variants in the HSPA1A gene, specifically the +190CC genotype and -110C/+190C haplotype, are associated with an increased risk of coronary heart disease (CHD). These findings suggest HSPA1A polymorphisms may serve as biomarkers for CHD susceptibility.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular Disease Research
  • Biomarker Discovery

Background:

  • Heat shock protein 70 (HSP70) is implicated in endothelial cell apoptosis and coronary heart disease (CHD) development.
  • The relationship between HSP70 gene polymorphisms and CHD risk remains incompletely understood.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in the HSPA1A gene and the risk of developing CHD.
  • To explore the functional impact of identified HSPA1A variants on gene expression.

Main Methods:

  • A case-control study involving 1,003 pairs was conducted to analyze two HSPA1A SNPs: +190G/C (rs1043618) and -110A/C (rs1008438).
  • Genotyping and statistical analysis were performed to assess the association with CHD risk.
  • Luciferase reporter assays were utilized to evaluate the functional effects of the +190G/C polymorphism in different cell lines.

Main Results:

  • The +190CC genotype of HSPA1A was significantly associated with an elevated risk of CHD (OR = 1.56, P = 0.012).
  • A significant association was observed between the -110C/+190C haplotype and increased CHD risk (OR = 1.17, P = 0.031).
  • Luciferase assays revealed that the +190C allele led to a 14%–45% reduction in gene expression compared to the +190G allele.

Conclusions:

  • Genetic variations in the HSPA1A gene, particularly in combination, appear to influence susceptibility to CHD.
  • These findings suggest that HSPA1A polymorphisms may affect HSP70 synthesis levels, contributing to CHD risk.
  • The identified HSPA1A variants could potentially serve as valuable biomarkers for identifying individuals at risk for CHD.
Abstract

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...