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Updated: Mar 16, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association of interleukin 1 gene cluster and interleukin 1 receptor gene polymorphisms with ischemic heart failure
Insights
Genetic variations in the Interleukin-1 beta (IL-1β) gene may increase susceptibility to chronic heart failure (CHF) from ischemic heart disease. Specific IL-1β alleles and genotypes were more common in patients with this condition.
Area of Science:
- Genetics and Molecular Biology
- Cardiovascular Medicine
- Immunology
Background:
- Proinflammatory cytokines are implicated in the development of chronic heart failure (CHF).
- The Interleukin-1 (IL-1) gene cluster, including IL-1α, IL-1β, and IL-1 receptor antagonist (IL-1RA), plays a role in inflammatory processes.
- Investigating genetic polymorphisms in the IL-1 gene cluster may reveal insights into CHF pathogenesis.
Purpose of the Study:
- To determine if polymorphisms in the IL-1 gene cluster (IL-1α, IL-1β, IL-1RA, IL-1R) predict chronic heart failure (CHF) caused by ischemic heart disease.
- To assess the association between specific single nucleotide polymorphisms (SNPs) and the risk of developing ischemic heart failure.
Main Methods:
- A case-control study comparing 43 patients with ischemic heart failure to 140 healthy controls.
- Genotyping of 5 SNPs in the IL-1α, IL-1β, IL-1R, and IL-1RA genes using polymerase chain reaction with sequence-specific primers.
- Analysis of allele and genotype frequencies between the patient and control groups.
Main Results:
- A significantly higher frequency of the IL-1β -511/C allele was observed in the ischemic heart failure patient group compared to controls (p = 0.031).
- The IL-1β (-511) C/C genotype was significantly overrepresented in patients with ischemic heart failure versus controls (p = 0.022).
Conclusions:
- Specific alleles and genotypes within the IL-1β gene are more prevalent in patients with ischemic heart failure.
- These genetic variations in IL-1β may contribute to an individual's susceptibility to developing ischemic heart failure.
Background:
Proinflammatory cytokines have been known to play a considerable part in the pathomechanisms of chronic heart failure (CHF). Given the importance of proinflammatory cytokines in the context of the failing heart, we assessed whether the polymorphisms of interleukin (IL)-1 gene cluster, including IL-1α, IL-1β, and IL-1 receptor antagonist (IL-1RA) and IL-1R gene are predictors of CHF due to ischemic heart disease.
Methods:
Forty- three patients with ischemic heart failure were recruited in this study as patients group and compared with 140 healthy unrelated control subjects. Using polymerase chain reaction with sequence-specific primers method, the allele and genotype frequency of 5 single nucleotide polymorphisms (SNPs) within the IL-1α (-889), IL-1β (-511, +3962), IL-1R (psti 1970), and IL-1RA (mspa1 11100) genes were determined.
Results:
The frequency of the IL-1β -511/C allele was significantly higher in the patient group compared to that in the control group (p = 0.031). The IL-1β (-511) C/C genotype was significantly overrepresented in patients compared to controls (p = 0.022).
Conclusions:
Particular allele and genotype in IL-1β gene were overrepresented in patients with ischemic heart failure, possibly affecting the individual susceptibility to this disease (Tab. 1, Ref. 27).
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