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Updated: Jun 24, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Association of interleukin-1B gene polymorphisms with coronary heart disease]
Yin-Hua Zhu1, Yong-Chun Xu, Bin Zhou
1Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, China.
Insights
The interleukin-1B gene -31T/C polymorphism is linked to an increased risk of coronary heart disease (CHD) in the Chengdu Han population. No association was found with the +3953 locus.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Immunology
Context:
- Coronary heart disease (CHD) is a significant global health concern.
- Genetic factors play a role in CHD susceptibility.
- Interleukin-1B (IL-1B) is an inflammatory cytokine implicated in atherosclerosis.
Purpose:
- To investigate the association between specific polymorphisms in the interleukin-1B (IL-1B) gene and the risk of developing coronary heart disease (CHD).
- The study focused on single nucleotide polymorphisms (SNPs) at the -31 promoter and +3953 exon 5 loci within the IL-1B gene.
Summary:
- A case-control study analyzed two IL-1B gene SNPs (-31T/C and +3953C/T) in 100 CHD patients and 144 healthy controls from the Chengdu Han population using PCR-RFLP.
- Results indicated that carriers of the -31T allele in the IL-1B gene had a significantly higher risk of CHD (OR = 2.12, P < 0.01).
- No significant difference in genotype or allele frequencies at the IL-1B +3953 locus was observed between CHD cases and controls.
Impact:
- The findings suggest that the IL-1B -31T/C polymorphism may be a contributing genetic factor to CHD risk in the studied population.
- This research contributes to understanding the genetic underpinnings of CHD and may inform future risk stratification strategies.
Objective:
To determine whether polymorphisms in interleukin-1B gene promoter -31 and exon 5 +3953 loci are associated with coronary heart diseases (CHD) in Chengdu Han population.
Methods:
Two SNPs of IL-1B gene (+3953C/T and -31T/C) in 100 patients with CHD (CHD group) and 144 healthy controls in Chengdu were analysed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Results:
Two genotypes at IL-1B + 3953 locus (CC and CT) and 3 genotypes at IL-1B -31 locus (CC, TC and TT) were identified. The -31T alleles carriers were associated with a significantly increased risk of CHD as compared with the non-carriers (OR = 2.12, 95% CI: 1.45-3.09, P < 0.01). Genotypes and allele frequencies at IL-1B + 3953 locus in CHD cases did not differ from the controls.
Conclusion:
IL-1B -31T/C polymorphism may contribute to the risk of developing CHD in Chengdu Han population.
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