STAT4 rs7574865位点单核苷酸多态性与江苏部分地区汉族人群原发性胆汁性肝硬化相关

发布时间：2018-03-13 10:23

  本文选题：信号转导子和转录活化子　切入点：rs　出处：《细胞与分子免疫学杂志》2017年04期 　论文类型：期刊论文

【摘要】：目的探讨信号转导子与转录活化子4(STAT4)基因rs7574865位点单核苷酸多态性(SNP)与江苏地区汉族人群原发性胆汁性肝硬化(PBC)的相关性。方法收集江苏省常州三院住院的PBC患者138例和116例无血缘关系健康人群外周血标本。采用聚合酶链反应-序列特异性引物(PCR-SSP)法检测STAT4基因rs7574865位点的基因型,使用χ2检验对两组人群中基因型及等位基因频率的分布进行比较,明确该基因位点是否为PBC易感位点;并分析该位点与PBC患者血清抗线粒体M2(AMA-M2)抗体、抗核抗体(ANA)、抗着丝粒蛋白B(Cenp B)抗体、抗糖蛋白210(GP210)抗体、抗骨架蛋白100(SP100)抗体间的相关性。结果 STAT4 rs7574865位点存在GG、GT、TT三种基因型,基因型TT在PBC患者中的频率为20.3%,明显高于对照组的6.9%,OR为3.436,等位基因T的频率分别为42.4%和31.9%,OR为1.571;基因型TT和等位基因T与PBC患者血清自身抗体间不存在相关性。结论江苏地区汉族人群STAT4 rs7574865基因位点多态性与PBC存在相关性。
[Abstract]:Objective to investigate the association between single nucleotide polymorphisms (SNPs) of signal transducers and activators of transcription 4 STAT4 (rs7574865) and primary biliary cirrhosis in Jiangsu Han population. Methods the PBC patients hospitalized in the third Hospital of Changzhou, Jiangsu Province were collected. The genotypes of rs7574865 loci of STAT4 gene were detected by polymerase chain reaction-sequence-specific primer PCR-SSP method in peripheral blood samples of 138 and 116 unrelated healthy subjects. The distribution of genotypes and alleles in the two groups were compared by 蠂 2 test to determine whether the locus was susceptible to PBC, and to analyze the anti-mtDNA M2AMA-M2 antibody in serum of patients with PBC. There were three genotypes in the STAT4 rs7574865 locus: Ana, Ana, anti-centromere, anti-glycoprotein 210GP210) and anti-skeleton protein (100 / SP100), respectively, and the results showed that there were three genotypes in the STAT4 rs7574865 locus. The frequency of genotype TT in patients with PBC was 20.3, which was significantly higher than that in the control group (OR = 3.436). The frequency of allele T was 42.4% and 31.9T, respectively. There was no correlation between genotype TT and allele T and serum autoantibodies in patients with PBC. The polymorphism of STAT4 rs7574865 gene was associated with PBC in Jiangsu Han population.
【作者单位】： 江苏大学医学院;常州市第三人民医院检验科;
【基金】：常州市社会发展科技计划项目(CJ20122015)
【分类号】：R575.22
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本文编号：1605973