山东汉族人群STAT4基因启动子区域单核苷酸多态与支气管哮喘的相关性  

Association analysis of single nucleotide polymorphism in the STAT4 gene promoter region with asthma in the Chinese Han population from Shandong Province

作　　者：张文静[1] 刘奇迹[1] 高贵敏[1] 李怀臣[2] 魏春华 龚瑶琴[1] 

机构地区：[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250012 [2]山东省立医院呼吸内科,济南250021 [3]潍坊哮喘病医院,山东潍坊261041

出　　处：《山东大学学报（医学版）》2007年第12期1197-1200,共4页Journal of Shandong University:Health Sciences

基　　金：国家自然科学基金资助项目(30300310;30671956);国家863基金资助项目(2002BA711A08)

摘　　要：目的分析信号转导子及转录激活因子4(signal transducer and activator of transcription4,STAT4)基因启动子区域单核苷酸多态(single nucleotide polymorphism,SNP)位点rs16833431A>G多态性与山东汉族人群支气管哮喘发生的相关性。方法采用聚合酶链式反应-限制性片断长度多态(polymerase chain reactionand restrictionfragment length polymorphism,PCR-RFLP)方法检测220例哮喘患者和233例正常对照STAT4基因启动子区域多态位点rs16833431A>G的基因型,计算基因型与基因频率,采用χ2检验进行组间比较。结果STAT4基因rs16833431多态位点AA、AG、和GG基因型频率在病例组中分别为0.536、0.377和0.086,在对照组中分别为0.515、0.399和0.086,A和G等位基因的频率在病例组分别为0.725和0.275,在对照组分别为0.715和0.285,该位点基因型和等位基因分布在病例组与对照组均无统计学差异。结论STAT4基因启动子区域rs16833431A>G位点单核苷酸多态与山东汉族人群哮喘发生无明显相关性。Objective To explore the association of a single nucleotide polymorphism （SNP）, rs16833431 A 〉 G, in the promoter region of the signal transducer and activator of transcription 4 （STAT4） with asthma in the Chinese Han population from Shandong Province. Methods SNP rs16833431 A 〉 G was genotyped by polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP） in 220 asthmatic subjects and 233 controls from Shandong Province. A Chi-square test was used to determine the association of SNP with asthma. Results The frequencies of genotypes AA, AG and GG at SNP rs16833431 A 〉 G were 0. 536, 0. 377 and 0. 086 in asthma patients, while 0. 515, 0.399 and 0.086 in healthy controls. Conclusion No significant difference is observed between STAT4 promoter polymorphism and asthma in the Chinese Han population from Shandong Province.

关 键 词：信号转导及转录激活因子4 哮喘 多态性 单核苷酸 相关性 

分 类 号：R394[医药卫生—医学遗传学]