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Genetic variants in HSP40 co-chaperones modulate ischemic heart disease risk
Olga Polshvedkina1,2, Ksenia Kobzeva1, Olga Bushueva3,4
1Laboratory of Genomic Research, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, Kursk, 305041, Russia.
Molecular Biology Reports
|September 10, 2025
Summary
Genetic variants in the HSP40 family impact ischemic heart disease (IHD) risk and clinical features. Specific single nucleotide polymorphisms (SNPs) in DNAJA2 and DNAJB1 were associated with varying IHD risk depending on smoking status and age.
Area of Science:
- Cardiovascular Genetics
- Molecular Biology
- Protein Homeostasis
Background:
- The chaperoning system is crucial for protein homeostasis and implicated in cardiovascular diseases.
- The HSP40 family, a key co-chaperone of HSP70, is understudied regarding ischemic heart disease (IHD) risk.
Purpose of the Study:
- To investigate the association between HSP40 gene variants and IHD risk.
- To explore the influence of these variants on clinical parameters in IHD patients.
Main Methods:
- Genotyping of 834 IHD patients and 1,328 healthy controls for three SNPs (rs2034598, rs7189628 in DNAJA2, and rs4926222 in DNAJB1) using real-time PCR.
Main Results:
- SNP rs7189628 (DNAJA2) associated with increased IHD risk in smokers (OR=1.65).
- SNP rs2034598 (DNAJA2) associated with increased IHD risk in non-smokers (OR=1.22).
- SNP rs4926222 (DNAJB1) associated with reduced IHD risk in patients under 62 (OR=0.73).
- These SNPs also modulated platelet counts, IHD onset age, activated partial thromboplastin time, prothrombin index, and BMI in a context-specific manner.
Conclusions:
- Genetic variants in the HSP40 family influence IHD risk.
- These variants also affect clinical features of IHD in a context-specific manner.
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