IL27p28基因启动子区域964A＞G位点多态性与中国汉族人群支气管哮喘的相关性.docVIP

IL27p28基因启动子区域964A＞G位点多态性与中国汉族人群支气管哮喘的相关性 作者：邱熔芳,李际盛,高贵敏,郭辰虹,李怀臣 作者单位：1. 山东大学实验畸形学教育部重点实验室 山东大学医学院医学遗传学研究所， 济南 ; 2. 山东大学附属省立医院呼吸内科， 济南 ; 3. 潍坊哮喘病医院， 山东 潍坊 【摘要】目的 检测中国汉族人群IL27p28基因启动子区域一个单核苷酸多态位点964A G的多态性，探讨该位点多态性与中国汉族人群支气管哮喘易感性的关系。方法 采用聚合酶链式反应 限制性片段长度多态性(PCRRFLP)法检测360例哮喘患者和220例正常对照者IL27p28基因启动子区域单核苷酸多态位点964A G的基因型，计算基因型频率和等位基因频率，对比分析两组基因频率和基因型频率分布。结果 IL27p28基因启动子区域964A G位点在中国汉族人群中具有多态性，其基因频率与基因型频率分布在病例组和对照组中均符合HardyWeinberg平衡，基因型AA、GA和GG的频率在病例组分别为0.4028、0.4205和0.1722，在对照组中分别为0.4318、0.4455和0.1227; 该位点的基因型频率及等位基因频率在病例组和对照组间的差异均无统计学意义(P=0.274)，提示该多态位点与中国汉族人群哮喘无显著相关性。结论 IL27p28基因启动子区域单核苷酸多态964A G与中国汉族人群支气管哮喘易感性没有显著相关性。 【关键词】 支气管哮喘,白细胞介素27 单核苷酸多态 Th细胞 关联分析 To genotype a single nucleotide polymorphism (SNP), 964A G, in the IL27p28 gene promoter region and evaluate the association between SNP and asthma susceptibility in a Chinese Han population from Shandong Province. Methods SNP 964A G was genotyped in 360 asthma patients and 220 healthy controls by using the polymerase chain reaction and restriction fragment length polymorphism (PCRRFLP) method. The Chisquare test was used to evaluate the HardyWeinberg equilibrium. Allele frequencies and significance values were analyzed by using SPSS13.0 software. Results SNP 964A G was genetically polymorphic in the Chinese Han population. The distribution of this SNP was at HardyWeinberg equilibrium in both asthma patients and healthy controls. The frequencies of genotypes AA, GA, and GG at 964A G site were 0.4028, 0.4205, and 0.1722 in the asthma patients, while 0.4318, 0.4455, and 0.1227 in the healthy controls. No statistically significant difference was observed in the distribution of genotype and allele frequency between asthma patients and healthy controls (all P 0.05). Conclusions SNP 964A G in the IL27p28 gene promoter region is not associated with asthma in the Chinese Han population, IL27p28基因启动子区域964A G位点多态性与中国汉族人群支气管哮喘的相关性Key words： Asthma; Interleukin 27p28; Single nucleotide polymorphism; Ass