| 李黎 邬超 王怀振 杨晓红 买买提艾力·吐尔逊 魏雪梅.维吾尔族饲鸽者肺IFN-r及IL-4 基因多态性研究[J].,2015,15(36):7049-7053 |
| 维吾尔族饲鸽者肺IFN-r及IL-4 基因多态性研究 |
| Study of IL-4 and IFN-r Gene Single Nucleotide Polymorphismin UygurPatients with Pigeon Breeder's Lung |
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| DOI： |
| 中文关键词: 维吾尔族 饲鸽者肺 IFN-r IL-4 SNP |
| 英文关键词: Uighur Pigeon breeder’s lung IFN-r IL-4 SNP |
| 基金项目:国家自然科学基金地区科学基金项目（81260003） |
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| 中文摘要: |
| 目的：探讨IFN-r(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MassARRAY技术平台设计引物、PCR扩增、SAP、单碱基延伸、
点样质谱检测IFN-r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-酌(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-r
(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-r(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 可能是维吾尔族PBL 易感的一个危险因
素，可能会增加维吾尔族饲养鸽子者发生PBL的风险，需要增加样本量进一步验证。 |
| 英文摘要: |
| Objective:To study of IL-4 gene and IFN-r 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 MassARRAY
technology according to SNP loci appendix sequence information, SNPs at the genes for IL-4 and IFN-r 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-r(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 were
0.018,0.025, the difference was statistically significant. The difference between CC homozygotes and heterozygotes CT was not
statistically significant (P=0.402；P=0.134).Conclusion:IFN-r(rs2069705) polymorphism may be involved in the development of
Uighur PBL, but it may not play a role in the pathogenesis of PBL, which need increase the sample size to further confirmed. IL-4
(rs2070874) polymorphisms may be involved in the occurrence and development of Uighur Pigeon Breeder's Lung (PBL). IL-4
(rs2070874) carrying TT homozygotes may be a risk factor for susceptibility of Uighur PBL, and may increase the risk of PBL, and need
increase the sample size to further validation. |
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