山西地区汉族人Graves病与PARP―1STAT4基因多态关联研究.docVIP

山西地区汉族人Graves病与PARP―1STAT4基因多态关联研究 　　[摘要] 目的 该实验通过对山西地区汉族人Graves病（GD）的聚腺苷二磷酸核糖聚合酶-1（PARP-1）和信号转导和转录激活因子4（STAT4）基因多态性检测，旨在从基因水平评估其在GD发病机制中的作用。方法 用聚合酶链式反应-限制性内切酶片段长度多态性（PCR-RFLP）和基因测序方法分别对2015年4―7月流调人群中61例GD患者和50例健康人的PARP-1基因的1672位点和STAT4基因的rs7574865位点进行基因型分析，比较两组的基因型和基因频率。 结果 PARP-1基因G1672A的GG型病人患GD病的风险有2.3倍高，基因频率的比较，GD病患者的G频率风险是正常对照组的1.452倍。通过测序回报结果，GD患者rs7574865的基因频率T是健康对照组的1.744倍。结论 Graves病与PARP-1、STAT4基因多态性有关。 　　[关键词] Graves病；聚腺苷二磷酸核糖聚合酶-1和信号转导和转录激活因子4；多态性 　　[中图分类号] R5 [文献标识码] A [文章编号] 1674-0742（2016）05（b）-0054-03 　　[Abstract] Objective To evaluate the effect of the poly （adp-ribose） polymerase-1 （PARP-1）， signal transduction and activating transcription factor （STAT4） gene polymorphism in the GD pathogenesis by detecting them in Graves disease in the han Chinese of Shanxi area. Methods The 1672 loci in PARP-1 genes and rs7574865 loci in STAT4 genes from 61 cases of GD patients and 50 healthy cases in the epidemiological population from April 2015 to July 2015 were given genotyping according to the polymerase chain reaction- restriction fragment length polymorphisim and genetic sequencing method， and the genotype and gene frequency were compared between the two groups. Results The risk of suffering from GD disease of GG type PARP-1 patients with G1672A gene was 2.3 times as high as that of the normal control group， in terms of the gene frequency， the G frequency risk of the patients with GD disease was 1.452 times as high as that of the normal control group， the sequencing results showed that gene frequency T of rs7574865 in GD patients was 1.744 times as many as that of the normal control group. Conclusion There is a correlation between the Graves disease and PARP-1 and STAT4 gene polymorphism. 　　[Key words] Graves disease； Poly （adp-ribose） polymerase-1（PARP-1）， signal transduction and activating transcription factor； Polymorphism 　　Graves病（GD）又称弥慢性毒性甲状腺肿，是甲亢中最常见的类型，占85%～90%。近年来，GD的研究取得了很大的进展，其发病机制今仍未阐明。PARP-1增加使淋巴B细胞产生自身抗体的细胞因子，这种被认为和GD的发病机制有很大关系[1]。调查关