背景：肺癌是最常见的人类恶性疾病之一。本研究旨在探讨IL1RL1基因多态性与中国汉族人群肺癌风险之间的关联。方法：我们使用Agena MassARRAY系统在507例肺癌患者和507名健康对照中选择和基因分型了IL1RL1基因的六个SNP。采用 logistic 回归分析评估IL1RL1变异体与肺癌风险之间的关联，计算奥斯比比值（OR）和95％置信区间（CI）。多因素尺度缩减（MDR）分析用于分析SNP-SNP交互作用对肺癌风险的影响。结果：总体分析结果表明，rs12479210（T vs. C：OR = 1.42，FDR-p = 0.002；TC vs. CC：OR = 1.70，FDR-p < 0.0001；TT vs. CC：OR = 1.77，FDR-p = 0.032；TT-TC vs. CC：OR = 1.71， FDR-p = 0.001；加法模型：OR = 1.44，FDR-p = 0.001）和rs1420101（T vs. C：OR = 1.31，FDR-p = 0.036； TT-TC vs. CC：OR = 1.42，FDR-p = 0.031；加法模型：OR = 1.30，FDR-p = 0.030）与中国汉族人群中肺癌风险增加相关。分层分析还发现这两个SNP与肺癌风险之间的关联。然而，在IL1RL1的另外四个SNP（rs3771180，rs3771175，rs10208293和rs10197862）与肺癌风险之间没有观察到显著关联。此外，MDR分析显示rs12479210是最佳的单个模型，具有最高的测试准确性（0.566）和完美的CVC（10/10），可用于预测肺癌风险。IL1RL1基因在肺癌组织中的表达水平低于正常组织，并且在肺癌组织中，rs12479210和rs1420101的基因型在IL1RL1的表达水平上存在显著差异（p < 0.05）。结论：我们的研究结果表明IL1RL1基因变异体（rs12479210和rs1420101）与中国汉族人群中肺癌风险的增加相关。这些风险变异体可能成为预防和治疗肺癌的生物标志物。版权所有©2023年李氏、张氏、程氏、杨氏、陈氏、何氏和陈氏。

Background: Lung cancer is one of the most common human malignant diseases. In this study, we aimed to explore the association between IL1RL1 genetic polymorphisms and lung cancer risk in the Chinese Han population. Methods: We selected and genotyped six SNPs in the IL1RL1 gene using the Agena MassARRAY system in 507 lung cancer patients and 507 healthy controls. The association between IL1RL1 variants and lung cancer risk was assessed using logistic regression to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Multi-factor dimensionality reduction (MDR) was used to analyze the impact of SNP-SNP interactions on the risk of lung cancer. Results: The results of overall analysis indicated that rs12479210 (T vs. C: OR = 1.42, FDR-p = 0.002; TC vs. CC: OR = 1.70, FDR-p < 0.0001; TT vs. CC: OR = 1.77, FDR-p = 0.032; TT-TC vs. CC: OR = 1.71, FDR-p = 0.001; additive: OR = 1.44, FDR-p = 0.001) and rs1420101 (T vs. C: OR = 1.31, FDR-p = 0.036; TT-TC vs. CC: OR = 1.42, FDR-p = 0.031; additive: OR = 1.30, FDR-p = 0.030) were associated with an increased the risk of lung cancer among the Chinese Han population. Stratified analysis also found the association between these two SNPs and lung cancer risk. However, there were no significant association observed between the other four SNPs (rs3771180, rs3771175, rs10208293, and rs10197862) in IL1RL1 and lung cancer risk. Furthermore, MDR analysis showed that rs12479210 was the best single model with the highest testing accuracy (0.566) and perfect CVC (10/10) for predicting lung cancer risk. The expression level of the IL1RL1 gene is lower in lung cancer tissue than normal tissue, and there are significant differences in the expression levels of IL1RL1 between rs12479210 and rs1420101 genetypes in lung cancer tissue (p < 0.05). Conclusion: Our findings suggest that IL1RL1 genetic variants (rs12479210 and rs1420101) are associated with an increased lung cancer risk in the Chinese Han population. These risk variants may serve as biomarkers for the prevention and treatment of lung cancer.Copyright © 2023 Li, Zhang, Cheng, Yang, Chen, He and Chen.