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付锴, 彭瑛, 李娅姣, 等. 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.
引用本文: 付锴, 彭瑛, 李娅姣, 等. 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.
FU Kai, PENG Ying, LI Ya-jiao, et al. Signal Transducer and Activator of Transcription 4 Gene Polymorphisms Associated with Dilated Cardiomyopathy in Chinese Han Population[J]. Journal of Sichuan University (Medical Sciences), 2013, 44(4): 558-562.
Citation: FU Kai, PENG Ying, LI Ya-jiao, et al. Signal Transducer and Activator of Transcription 4 Gene Polymorphisms Associated with Dilated Cardiomyopathy in Chinese Han Population[J]. Journal of Sichuan University (Medical Sciences), 2013, 44(4): 558-562.

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: 目的 研究信号传导和转录激活子4基因(STAT4)单核苷酸多态性与中国汉族人群扩张型心肌病(DCM)的相关性。 方法 采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)方法,对294例DCM患者和334例正常对照者中STAT4基因rs7574865、rs11889341位点进行群体遗传学研究,分析STAT4基因两SNP位点在两组样本间基因型频率、等位基因频率分布,探讨STAT4基因多态性是否与DCM发病相关。 结果 STAT4基因rs11889341位点GG基因型频率和G等位基因频率在DCM组患者中较高,与正常对照组相比差异有统计学意义(分别为55.8% vs.47.9%,P=0.039和76.4% vs.70.7%,P=0.023,OR=1.341,95%CI为1.042~1.727)。rs7574865位点CC+AC基因型频率在DCM组患者中较高,与正常对照组相比差异有统计学意义(94.2% vs.89.2%,P=0.025,OR=1.968,95%CI为1.081~3.585),该位点的等位基因频率分布在DCM组与对照组之间差异无统计学意义。 结论 本研究首次证明STAT4基因单核苷酸多态性与DCM相关,STAT4基因rs11889341位点GG基因型和G等位基因及rs7574865位点CC+AC基因型可能会增加DCM发生的危险性。

     

    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). No significant 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.

     

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