IL-1、IL-6基因多态性与慢性阻塞性肺疾病肺动脉高压相关性研究

Relationship between the Genetic Polymorphism of IL-1,IL-6 and Pulmonary Hypertension in Patient with COPD

目的本研究旨在了解中国内蒙古包头地区汉族人群中人白细胞介素-1（IL-1）、白细胞介素-6（IL-6）基蚓多态性与慢性阻塞性肺疾病（COPD）及COPD相关肺动脉高压的关系，探讨COPD、COPD相关肺动脉高压发病机制。方法采用病例-对照研究，COPD组63例及健康对照组54例，并根据肺动脉压，COPD患者分为COPD肺动脉高压组30例COPD肺动脉压正常组33例。利用聚合酶链反应（PCR）和限制性内切酶片段长度多态性技术（RFLP）鉴别IL-113基因启动子区511位点、IL-6基因启动子区572位点基因型。结果COPD组与对照组IL-1β-511位点基因型频率、等位基因频率比较，差异有统计学意义（P〈0．05），T等位基因及TT基因型在COPD组明显高于健康对照组（P〈0．05），T等位基因（OR=2．125，95％Cl：1．257～3．594）及IL-1β-511TT基因型（OR=4．75，95％CI：1．550～14．556）与COPD易感性相关；两组间IL-6基因572位点基因型频率、等位基因频率比较，差异均无统计学意义（P〉0．05）；COPD肺动脉高压组与COPD肺动脉压正常组间IL-1β-51l位点基因型频率、等位基因频率及IL一6基因572位点基因型频率、等位基因频率比较，差异均无统计学意义（P〉0．05）。结论IL-1β-511位点基因多态性可能与中国内蒙古包头汉族人群COPD的易感性有关，T等位基因可能是易感基因；IL-6基因572位点基因多态性可能与COPD易感性无关；IL-1B-511、IL-6基因572位点基因多态性可能与中国内蒙古包头汉族人群COPD相关肺动脉高压易感性无关。

Objective To investigate whether interleukin - 1 （IL - 1 ） and interleukin - 6 （ IL - 6） gene polymorphism play a role in the development of COPD and COPD - Related Pulmonary Hypertension （ PH）. Methods It was a case - control study. COPD pa- tients were divided into COPD with PH and COPD without PH according to the pulmonary artery pressure. The polymorphisms in gene of IL- 1β promoter region at- 511 and IL-6 promoter region at-572 in patients and the controls were performed by Polymerase Chain Re- action - Restriction Fragment Length Polymorphism （ PCR - RFLP）. Results The genotype frequencies of IL - 1 β - 511 and IL - 6 - 572 were all in Hardy -Weinberg equilibrium, so groups were representative. There was significant difference in the genotype and allele frequencies of IL - 1β -511 between patients and controls. Subjects with allele T compared with allele C had a higher risk for developing COPD （OR = 2. 125, 95% CI：I. 257 -3. 594）. There was no significant difference in the genotype and allele frequencies of IL- 6 -572 between patients and controls. There was no significant difference in the genotype and allele frequencies of IL - 6 - 572, IL - 1 [3 - 5l I while compared COPD related PH to COPD without PH. Conclusion IL - 1β -511 single nucleotide polymorphism is significantly asso- ciated with COPD in HaM nationality of Baotou in Inner Mongolia. IL - 1β - 511T allele could confer a increased risk of developing COPD. IL -6 promoter region at -572 single nucleotide polymorphism was not significantly associated with COPD. IL- 1β -511 and 1L -6 -572 single nucleotide polymorphism were not significantly associated with COPD related PH.