慢性阻塞性肺疾病易感性与白细胞介素1基因的多态性  

Relationship between interleukin-1 cytokine gene polymorphisms and genetic susceptibility to chronic obstructive pulmonary diseases

作　　者：石玉枝[1] 刘豹[1] 霍建民[1] 张薇[1] 

机构地区：[1]哈尔滨医科大学第一附属医院呼吸内科,黑龙江省哈尔滨市150036

出　　处：《中国临床康复》2006年第16期67-69,i0003,共4页Chinese Journal of Clinical Rehabilitation

基　　金：黑龙江省科技攻关项目(GC02C151)~~

摘　　要：目的:观察白细胞介素1细胞因子家族白细胞介素1α,白细胞介素1β和白细胞介素1受体拮抗剂基因多态性,探讨其与慢性阻塞性肺疾病基因易感性的关系。方法:选择2004-03/2005-06哈尔滨医科大学收治的吸烟慢性阻塞性肺疾病患者资料88例为观察组,男52例,女36例;同期选择与观察组性别、年龄匹配的无血缘关系的汉族健康吸烟者96名为对照组,男61名,女35名。应用聚合酶链反应及聚合酶链反应-限制性片段长度多态性方法检测白细胞介素1细胞因子家族不同基因型和基因频率两组观察对象中的分布。结果:慢性阻塞性肺疾病患者88例,健康吸烟者96名,全部进入结果分析。①慢性阻塞性肺疾病患者中白细胞介素1raRN2等位基因和RN2/2基因型的分布频率较健康吸烟组明显增加(0.307,0.151;0.125,0.042,P<0.05)。白细胞介素1raRN2纯合子和白细胞介素1raRN2等位基因携带者发生慢性阻塞性肺疾病的相对危险度分别为3.286(95%可信区间:1.006～10.733)和2.555(95%可信区间:1.538～4.224)。②等位基因白细胞介素1βB2和白细胞介素1βB2纯合子基因型的分布频率在慢性阻塞性肺疾病组中明显增加,与健康吸烟组差异有显著性(0.568,0.396;0.295,0.167,P<0.05)。白细胞介素1βB2纯合子和白细胞介素1βB2等位基因携带者发生慢性阻塞性肺疾病的相对危险度(OR值)分别为2.097(95%可信区间:1.035～4.246)和2.088(95%可信区间:1.326～3.043)。③白细胞介素1α串联重复顺序等位基因频率及基因型分布在两组间差异均无显著性(P>0.05)。结论:与白细胞介素1α基因多态性不同,等位基因白细胞介素1RN2和白细胞介素1βB2的基因多态性对慢性阻塞性肺疾病具有易感性。等位基因白细胞介素1βB2、白细胞介素1RN2可能是慢性阻塞性肺疾病的易感基因。AIM： To observe the gene polymorphisms of interleukin-1 （IL-1） family cytokine including IL-1α,IL-1β, IL-1ra （receptor antagonist）, and explore the correlation with gene susceptibility of chronic obstructive pulmonary disease（COPD）. METHODS： A total of 88 smoker inpatients with COPD, including 52 males and 36 females, who were treated at Harbin Medical University were selected as observed group, and 96 healthy smokers from Han people, including 61 males and 35 females, who matched age and gender well without blood relationship with patients were select as control group from March 2004 to June 2005.The distributions of IL-1 family cytokines of different gene types and frequencies were detected using polymerase chainreaction （PCR） and polymerase chain-reaction restriction fragment length polymorphism （PCR-RFLP） in both groups. RESULTS： Totally 88 patients with COPD and 96 healthy smokers were involved in the result analysis. ①The distribution frequencies of allele IL- 1ra RN2 and genotype RN2/2 were significantly higher in the COPD patients than in the control group （0.307, 0.151; 0.125, 0.042,P 〈 0.05）. The relative risks of COPD in carriers with homozygote IL-1ra RN2and allele IL-1ra RN2 were 3.286 （95% confidence interval： 1.006-10.733） and 2.555 （95% confidence interval： 1.538-4.224）. ②The distribution frequencies of allele IL-1βB2 and homozygote IL-1βB2 also increased remarkably in the COPD patients, and difference was significant between the two groups （0.568,0.396; 0.295,0.167,P 〈 0.05）. The relative risks of COPD in carriers with homozygote IL-1βB2 and allele IL-1βB2 were 2.097 （95% confidence interval： 1.035-4.246） and 2.088 （95% confidence interval： 1.326-3.043）. ③There was no significant difference in the distributions and gene frequency of IL-1α variable number of tandem repeat （VNTR） gene between the two groups（P 〉 0.05）. CONCLUSION： Allele IL-IRN2 and IL-1βB2 gene polymorphisms, but not IL-1α gene polymorphi

关 键 词：肺疾病 阻塞性/血液 白细胞介素1/血液 肺/病理生理学 慢性病 基因频率 基因表达 疾病遗传易感性 

分 类 号：R563[医药卫生—呼吸系统]