四川大学学报（医学版）2013，Vol.44Issue(4)：558-562,5.
信号传导和转录激活子4基因多态性与中国汉族人群扩张型心肌病的相关研究
Signal Transducer and Activator of Transcription 4 Gene Polymorphisms Associated with Dilated Cardiomyopathy in Chinese Han Population
摘要
Abstract
Objective To investigate the association between signal transducer and activator of transcription 4 (STAT4) gene polymorphism and dilated cardiomyopathy (DCM).Methods Two single nucleotide polymorphisms (SNP) (rs7574865 and rs11889341) in STAT4 gene were determined using PCR-RFLP method.The genotype and allele frequencies of these two SNPs were compared between 294 DCM patients and 334 normal controls to test whether SNPs in STAT4 was associated with DCM.Results Compared to healthy controls,the frequency of GG genotype (55.8％ in patients vs.47.9％ in controls,P=0.039) and the G allele in rs11889341 (76.4％ in patients vs.70.7％ in controls,P=0.023) were significantly increased in DCM patients.We found that increased DCM risk is associated with CC+AC genotypes of rs7574865 (94.2％ in patients vs.89.2％ in controls,P=0.025).Nosignificant difference was observed in the distribution of allele frequency in rs7874865 between DCM patients and the controls.Conclusion SNPs in STAT4 gene is associated with DCM.G allele and GG genotype in rs11889341,and CC+AC genotypes in rs7574865,may be associated with signi cantly increased risk of DCM.关键词
扩张型心肌病/信号传导和转录激活子4/单核苷酸多态性Key words
Dilated cardiomyopathy/Signal transducer and activator of transcription 4/Polymorphis引用本文复制引用
付锴,彭瑛,李娅姣,谢秋,杨浩,周斌,饶莉..信号传导和转录激活子4基因多态性与中国汉族人群扩张型心肌病的相关研究[J].四川大学学报（医学版）,2013,44(4):558-562,5.基金项目
教育部高等学校博士学科点专项科研基金(No.20110181110011)和四川省国际合作与交流项目(No.2012HH0032)资助 （No.20110181110011）
