维吾尔族饲鸽者肺IFN-γ及IL-4基因多态性研究  

Study of IL-4 and IFN-γ Gene Single Nucleotide Polymorphism in Uygur Patients with Pigeon Breeder's Lung

作　　者：李黎[1,2] 邬超 王怀振[1] 杨晓红[3,2] 买买提艾力.吐尔逊 魏雪梅 

机构地区：[1]新疆喀什地区第一人民医院呼吸与危重症医学科,新疆喀什844000 [2]石河子大学医学院,新疆石河子832000 [3]新疆自治区人民医院呼吸与危重症医学科,新疆乌鲁木齐830001

出　　处：《现代生物医学进展》2015年第36期7049-7053,7157,共6页Progress in Modern Biomedicine

基　　金：国家自然科学基金地区科学基金项目(81260003)

摘　　要：目的：探讨IFN-γ（rs2069705）及IL-4（rs2070874）基因单核苷酸多态性与维吾尔族饲鸽者肺的关系。方法：根据纳入及排除标准收集病例资料及血标本（总纳入92例,其中患病组32例,阴性对照组30例,正常对照组30例）,对纳入者的全血标本进行DNA提取,根据UCSC数据库中SNP位点附件的序列信息,利用Mass ARRAY技术平台设计引物、PCR扩增、SAP、单碱基延伸、点样质谱检测IFN-γ及IL-4基因进行多态性分析,采用SPSS18.0软件进行统计分析,基因型及等位基因分布频率的比较采用X2检验。结果：IFN-γ（rs2069705）基因存在CC、CT、TT三种基因型,IL-4（rs2070874）基因存在CC、CT、TT三种基因型,IFN-γ（rs2069705）CC、CT、TT基因型在患病组、未患病组、对照组中分布频数以及C、T等位基因在各组中分布频率比较均无明显差异（X2=2.607,P=0.626;X2=2.244,P=0.326）;并进行基因型分布频率的组间两两比较均无明显差异（X2=1.144,P=0.564;X2=0.534,P=0.766;X2=2.0,P=0.368）。IL-4（rs2070874）CC、CT、TT三种基因型在患病组、未患病组、对照组中分布频数以及C、T等位基因在各组中分布频率比较均无明显差异（X2=6.614,P=0.158;X2=5.408,P=0.067）;但进行基因型分布频率组间两两比较发现患病组与未患病组中比较差异有统计学意义（X2=6.67,P=0.036）;患病组中纯合子TT数量较纯合子CC及杂合子CT数量相比较,纯合子TT发生PBL的相对危险度OR（95%CI）分别为0.11（0.02~0.68）、0.16（0.03~0.79）,P值分别为0.018、0.025,差异有统计学意义;纯合子CC与杂合子CT比较差异无统计学意义（P=0.402;P=0.134）。结论：IFN-γ（rs2069727）基因多态性可能参与维吾尔族PBL的发生发展,但未在PBL发病机制中起作用,需要加大样本量进一步证实。而IL-4（rs2070874）基因多态性可能参与维吾尔族饲鸽者肺（Pigeon Breeder＇s Lung,PBL）的发生发展,IL-4（rs2070874）的携带纯合子TT�Objective： To study of IL-4 gene and IFN-γ Single Nucleotide Polymorphism in Urgur patients with pigeon breeder＇s lung. Methods： Clinical data and blood samples were collected in accordance with inclusion and exclusion criteria. A total of 92 cases were divided into the sick group of 32 cases, the unaffected group of 30 cases, and the normal group of 30 cases. DNA was isolated from blood samples. Primer design, sample preparation, PCR, SAP and single base extension were performed by using Mass ARRAY technology according to SNP loci appendix sequence information, SNPs at the genes for IL-4 and IFN- γ were analyzed using mass spectrometry. Statistical analyses were performed with SPSS17.0 statistical software, genotypes and allele frequencies at each SNP were compared by using the chi-square test. Results： IFN-γ（rs2069705） genes included of CC, CT, TT three genotypes, IL-4（rs2070874）genes included of CC, CT, TT three genotypes. Three kinds of IL-4（rs2070874） genotypes in the sick group, unaffected group, normal group is no statistical difference in the distribution of frequency, and the C, T allele frequency in each group showed no significant difference（X2=2.607, P=0.626; X2=2.244, P=0.326）, the genotype frequency between each two groups also showed no significant difference. The three kinds of IL-4（rs2070874） genotypes in the sick group, unaffected group, normal group is no statistical difference in the distribution of frequency, and the C, T allele frequency in each group showed no significant difference（X2=6.614,P=0.158;X2=5.408,P=0.067）,but genotype frequencies between each two groups showed differences were statistically significant in the sick group and unaffected group.（X2=6.67, P=0.036）. The TT homozygotes of sick group compared with the number of CC homozygotes and heterozygotes of CT, TT homozygotes occurrence of PBL OR（95% CI） were 0.11（0.02 ~ 0.68）, 0.16（0.03 ~ 0.79）, P values were0.018,0.025, the difference was statistically significant. The differenc

关 键 词：维吾尔族 饲鸽者肺 IFN-Γ IL-4 SNP 

分 类 号：R563.9[医药卫生—呼吸系统]