许文苑 丁召磊 许振

[摘要] 目的 探讨Toll样受体1（TLR1）基因外显子3区的单核苷酸多态性（SNP）与华北地区汉族人群支气管哮喘之间的关系。 方法 选取山东省潍坊市人民医院（以下简称“我院”）呼吸科2014年1月～2015年1月收治的支气管哮喘患者100例为哮喘组，选取同期在我院健康查体100例为对照组，采集外周血并提取全基因组DNA。采用聚合酶鏈反应-高分辨率熔解曲线（PCR-HRM）技术和DNA测序技术检测TLR1外显子3区的基因多态性。比较哮喘组和对照组等位基因和基因型的分布差异。 结果 哮喘组与对照组TLR1基因SNP的rs5743596分布差异无统计学意义（P > 0.05）。哮喘组与对照组等位基因C和T的分布频率差异无统计学意义（P > 0.05）。 结论 TLR1基因rs5743596位点的多态性与支气管哮喘易感性之间关系不大。

[关键词] Toll样受体1；单核苷酸多态性；高分辨率熔解曲线技术；支气管哮喘

[中图分类号] R562.2+5 [文献标识码] A [文章编号] 1673-7210（2016）02（b）-0017-04

Association analysis between polymorphism of Toll-like receptors 1 and susceptibility to asthma of Han people in North China

XU Wenyuan1 DING Zhaolei2 XU Zhen3 SHENG Jianhui1 TAN Wei2

1.Weifang Medical University， Shandong Province， Weifang 261042， China； 2.Department of Respiratory Medicine， People′s Hospital of Weifang City， Shandong Province， Weifang 261041， China； 3.Department of Surgery， Maternal and Child Health Hospital of Ningyang County， Shandong Province， Ningyang 271400， China

[Abstract] Objective To investigate the association between single nucleotide polymorphisms （SNP） of excon-3 in Toll-like receptors 1 （TLR1） and susceptibility to asthma of Han people in North China. Methods 100 patients with asthma treated in Respiratory Department， People′s Hospital of Weifang City in Shandong Province （"our hospital" for short） from January 2014 to January 2015 were selected as asthma group， in the same period， 100 cases with kindergarden in our hospital were selected as control group. DNA samples were taken from their peripheral blood. Polymerase chain reaction-high resoution melting （PCR-HRM） technique and DNA sequencing technique were employed to detect the polymorphisms of excon-3 in TLR1. And meanwhile， distribution of allele and genotype between asthma group and control group were measured. Results There was no statistical difference in the distribution of TLR1-rs5743596 between asthma group and control group （P > 0.05）. There were no statistical significantly differences in the allele frequencies of C and T between asthma group and control group （P > 0.05）. Conclusion The rs5743596 of TLR1-SNP may not be involved in the susceptibility to asthma.

[Key words] Toll-like receptors 1； Single nucleotide polymorphism； High resolution melting technique； Asthma

支气管哮喘（简称哮喘）是一种以气道高反应性和多种炎症细胞（中性粒细胞、嗜酸粒细胞、肥大细胞、淋巴细胞等）浸润为特征的气道慢性炎症。据世界卫生组织统计，目前患哮喘人数高达2.35亿人[1]。哮喘的患病率不断增长，有人提出哮喘的发生与吸烟、肥胖、过敏性疾病、暴露于颗粒物有密切的联系[2-4]。哮喘的发病机制已逐渐受到人们的关注。

免疫学研究认为，机体在遗传基础上受到外界刺激物影响时，外周血中性粒细胞、肥大细胞、巨噬细胞等可通过分泌细胞因子，导致Th1/Th2比列失衡，从而导致哮喘的发生[5]。Toll样受体（Toll-like receptors，TLRs）作为新近发现的细胞跨膜受体，他们主要分布于单核细胞、粒细胞、巨噬细胞、淋巴细胞、树突状细胞（dendritic cells，DCs）等多種免疫细胞表面[6]。