# Association of IL-18 gene polymorphisms with clinical aspects of hyperlipidemia in middle-aged and early people in the community

**Authors:** Po-Chun Chen, Wei-Hung Chen, Li-Ming Lien, Chia-Chi Chou, Chia-Chia Chao, Chyi-Huey Bai

PMC · DOI: 10.7150/ijms.90341 · International Journal of Medical Sciences · 2024-04-22

## TL;DR

This study finds that specific genetic variations in the IL-18 gene are linked to cholesterol levels and hyperlipidemia risk in a Chinese population.

## Contribution

The study is the first to report the association between IL-18 SNPs and hyperlipidemia in the Chinese Han population.

## Key findings

- rs3882891 AA is associated with lower hypercholesterolemia risk and higher cholesterol and LDL-C levels.
- rs1946518 CC is linked to higher cholesterol and LDL-C levels.
- The AC haplotype is associated with lower cholesterol and LDL-C levels.

## Abstract

Hyperlipidemia is notorious for causing coronary artery disease (CAD). IL-18 is a proinflammtory cytokine that contributes to the pathogenesis of CAD. Previous reports have revealed that genetic polymorphism of IL-18 is associated with its expression level as well as the susceptibility to CAD. In the present study, we aim to investigate the relationship between IL-18 single nucleotide polymorphisms (SNPs) and hyperlipidemia in the Han Chinese population in Taiwan. A total of 580 participants older than 30 were recruited from the community. We collected the demographics, self-reported disease histories, and lifestyles. We also assessed the levels of lipid profiles including total cholesterol (CHOL), triglyceride, low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol. Two SNPs, rs3882891C/A (intron 5) and rs1946518A/C (promoter -607) of IL-18 were elucidated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods. Our results revealed that rs3882891 AA was associated with lower risk of hypercholesterolemia, higher CHOL and LDL-C in subjects (p=0.003, p=0.000 and p=0.005 separately), and rs1946518 CC was associated with hypercholesterolemia, higher CHOL and LDL-C as well (p=0.021, p=0.003 and p=0.001 separately)

Furthermore, both SNPs were associated with IL-18 expression level, which was examined by Genotype-Tissue Expression (GTEx) Portal (p=0.042 and 0.016 separately). Finally, the haplotype of IL-18 was subsequently arranged in the order of rs3882891 and rs1946518. The result revealed that the AC haplotype of 2 IL-18 SNPs was also associated with lower risk of hypercholesterolemia, lower levels of CHOL and LDL-C (p=0.01, p=0.001 and 0.003). The current study is the first to report the association between IL-18 SNPs and hyperlipidemia in the Chinese Han population.

## Linked entities

- **Genes:** IL18 (interleukin 18) [NCBI Gene 3606]
- **Diseases:** hyperlipidemia (MONDO:0021187), coronary artery disease (MONDO:0005010)

## Full-text entities

- **Genes:** IL18 (interleukin 18) [NCBI Gene 3606] {aka IGIF, IL-18, IL-1g, IL1F4}
- **Diseases:** Hyperlipidemia (MESH:D006949), CAD (MESH:D003324), hypercholesterolemia (MESH:D006937)
- **Mutations:** rs3882891, C/A, rs1946518, A/C

## Full text

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## Figures

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## References

30 references — full list in the complete paper: https://tomesphere.com/paper/PMC11103393/full.md

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Source: https://tomesphere.com/paper/PMC11103393