HHIP 基因多态性对中国汉族 COPD 患者表型、血清 IL-17 和 IL-18 的影响。
Impact of HHIP gene polymorphisms on phenotypes, serum IL-17 and IL-18 in COPD patients of the Chinese Han population.
机构信息
School of Clinical Medicine, Ningxia Medical University, Yinchuan, Ningxia, 750004, People's Republic of China.
Department of Respiratory and Critical Care Medicine, General Hospital of Ningxia Medical University, 804 Shengli South Street, Xingqing District, Yinchuan, 750004, People's Republic of China.
出版信息
Respir Res. 2024 Oct 28;25(1):386. doi: 10.1186/s12931-024-03020-9.
BACKGROUND
Genetic factors, including the Hedgehog Interacting Protein (HHIP) gene, play a crucial role in Chronic Obstructive Pulmonary Disease (COPD) susceptibility. This study examines the association between HHIP gene polymorphisms and COPD susceptibility, phenotypes, and serum IL-17 and IL-18 levels in a Han Chinese population.
METHODS
A case-control study was conducted with 300 COPD patients and 300 healthy controls in Chinese Han population. Participants underwent genotyping for HHIP gene polymorphisms, pulmonary function tests, and quantitative CT scans. DNA samples were sequenced using a custom chip targeting the HHIP gene. Serum IL-17 and IL-18 levels were measured by enzyme-linked immunosorbent assay. Associations between SNPs, COPD susceptibility, and phenotypes were analyzed using logistic and multiple linear regression models, adjusting for confounders.
RESULTS
Our study identified the rs11100865 polymorphism in the HHIP gene as significantly associated with COPD susceptibility (OR 2.479, 95% CI 1.527-4.024, P = 2.39E-04) after screening 114 SNPs through rigorous quality control. Stratified analyses further indicated this association was particularly in individuals aged 60 or older. Serum levels of IL-17 and IL-18 were significantly elevated in COPD patients compared to controls, with rs11100865 showing a notable association with IL-18 levels (B = 49.654, SE = 19.627, P = 0.012). However, no significant associations were observed between rs11100865 and serum IL-17 levels, COPD-related imaging parameters, or clinical phenotypes.
CONCLUSION
This study identified a significant association between HHIP gene polymorphisms and COPD susceptibility in a Han Chinese population, with connections to inflammation, but found no significant associations between this SNP and COPD-related imaging or clinical phenotypes.
TRIAL REGISTRATION
www.chictr.org.cn ID: ChiCTR2300071579 2023-05-18.
背景
遗传因素，包括 Hedgehog 相互作用蛋白（HHIP）基因，在慢性阻塞性肺疾病（COPD）易感性中起着至关重要的作用。本研究旨在探讨 HHIP 基因多态性与汉族人群 COPD 易感性、表型以及血清白介素-17（IL-17）和白介素-18（IL-18）水平之间的关系。
方法
采用病例对照研究，选取中国汉族人群中 300 例 COPD 患者和 300 例健康对照者。对参与者进行 HHIP 基因多态性、肺功能和定量 CT 扫描检测。使用针对 HHIP 基因的定制芯片对 DNA 样本进行测序。采用酶联免疫吸附试验测定血清 IL-17 和 IL-18 水平。采用逻辑回归和多元线性回归模型分析 SNP 与 COPD 易感性和表型之间的关系，调整混杂因素。
结果
经过严格的质量控制筛选出 114 个 SNPs 后，我们发现 HHIP 基因中的 rs11100865 多态性与 COPD 易感性显著相关（OR 2.479，95%CI 1.527-4.024，P=2.39E-04）。分层分析进一步表明，这种关联在 60 岁或以上的个体中尤为明显。与对照组相比，COPD 患者的血清 IL-17 和 IL-18 水平显著升高，rs11100865 与 IL-18 水平显著相关（B=49.654，SE=19.627，P=0.012）。然而，rs11100865 与血清 IL-17 水平、COPD 相关的影像学参数或临床表型之间没有显著关联。
结论
本研究在汉族人群中发现 HHIP 基因多态性与 COPD 易感性之间存在显著关联，与炎症有关，但该 SNP 与 COPD 相关的影像学或临床表型之间没有显著关联。
试验注册
www.chictr.org.cn ID：ChiCTR2300071579，2023-05-18。
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