慢性阻塞性肺疾病易感性与中国汉族人白细胞介素-13基因多态性的关联研究

胡瑞成; 徐永健; 张珍祥

Abstract

胡瑞成,徐永健,张珍祥.慢性阻塞性肺疾病易感性与中国汉族人白细胞介素-13基因多态性的关联研究[J].Chinese journal of Epidemiology,2004,25(7):607-611

慢性阻塞性肺疾病易感性与中国汉族人白细胞介素-13基因多态性的关联研究

Study on the correlation of interleukin-13 polymorphism and susceptibility to chronic obstructive pulmonary disease in Chinese Han population

Received:July 03, 2003

DOI：

KeyWord: 慢性阻塞性肺疾病白细胞介素-13 基因表达遗传多态性

English Key Word: Chronic obstructive pulmonary disease Interleukin-13 Gene expression Genetic polymorphism

FundProject:国家"十五"科技攻关计划资助项目[2001BA703B03(B)];卫生部临床学科重点资助项目[(2001)321]

Author Name	Affiliation
HU Rui-cheng	Department of Respiratory Medicine,Affiliated tongji Hospital,tongji Medical College,Huazhong University of Science and Technology Wuhan 430030
XU Yong-jian	Department of Respiratory Medicine,Affiliated tongji Hospital,tongji Medical College,Huazhong University of Science and Technology Wuhan 430030
ZHANG Zhen-xiang	Department of Respiratory Medicine,Affiliated tongji Hospital,tongji Medical College,Huazhong University of Science and Technology Wuhan 430030

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Abstract:

目的探讨中国人白细胞介素(IL)-13基因单核苷酸多态性(SNP)与慢性阻塞性肺疾病(COPD)易感性的关系.方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析及PCR-单链构像多态性分析(SSCP)方法，检测94名健康吸烟者和88例吸烟COPD患者IL-13基因启动子1103C/T、4257G/A、4738G/A SNP位点基因型分布情况;用酶联免疫吸附试验(ELISA)检测血浆IL-13水平.结果 COPD组与对照组4257G/A、4738G/A位点基因型分布频率和等位基因频率差异无显著性(P<0.1);对照组1103C/T位点CC基因型频率及C等位基因频率高于COPD组(P<0.05)，C等位基因相对于T等位基因患COPD的机会比为0.56(95% CI:0.34～0.91).血浆IL-13浓度与4257G/A及4738G/A位点基因型无关(P>0.1)，1103CC基因型携带者血浆IL-13水平显著低于另外两种基因型携带者(P<0.05).结论中国人IL-13基因1103C/T位点基因型与COPD易感性有关，1103CC基因型携带者血浆IL-13水平相对较低，COPD易感性低.

English Abstract:

Objective To investigate the polymorphism of interleukin(IL)-13 gene in Chinese Han population,and to study the possible association of IL-13 polymorphism and the susceptibility to chronic obstructive pulmonary disease(COPD).Methods Using genomic DNA extracted with phenol:chloroform: isoamyl alcohol from the blood of 94 healthy smokers and 88 COPD smokers.three single nucleotide polymorphism(SNP)sites in IL-13 gene marked as 1103C/T,4257G/A,4738G/A were determined by polymerase chain reaction/ restriction fragment length polymorphism analysis or polymerase chain reaction/single strand conform ation analysis.In addition, plasma IL-13 concentration was measured bv ELISA on 24 healthy smokers and 24 smokers with chronic obstructive pulmonary disease. Results (1)To 4257G/A and 4738G/A SNP sites,the genotype frequencies and allele frequencies were not significantly different between healthy smokers and C0PD smokers(P>0.1).(2)to 1103C/T SNP site,relative higher CC genotype frequency and C allele frequency were found in healthy smokers(P<0.05),also C allele could prevent smokers from chronic obstructive pulmonary disease,with0R 0.56 and 95% confidence interval was 0.34-0.91.(3)Plasma IL-13 concentration was not affected by genotype of 4257G/A or 4738 G/A SNP sites.However,1103CC showed for significantly lower IL-13 concentration in plasma(P< 0.05). Conclusion The genotype of IL-l3 1103C/T SNP site was associated with the susceptibility to C0PD in Chinese Han po pulation and 1103CC accounted for relative lower plasma IL-13 concentration and lower risk for C0PD.

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