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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。
Objective To investigate the association between SNP rs7574865 locus of signal transducer and activator of transcription 4 (STAT4) and primary biliary cirrhosis (PBC) in Han population in Jiangsu Province. Methods Peripheral blood samples were collected from 138 hospitalized PBC patients and 116 healthy unrelated healthy people from Changzhou Third Hospital of Jiangsu Province. Genotypes of rs7574865 of STAT4 gene were detected by polymerase chain reaction-sequence-specific primers (PCR-SSP). The distributions of genotype and allele frequencies in two groups were compared using χ2 test. (PBC), and whether PBC was susceptible to PBC or not; and analyzed the relationship between serum PMA and serum levels of AMA-M2, ANA, Cenp B, 210 (GP210) antibody, anti-skeletal protein 100 (SP100) antibody. Results There were three genotypes of GG, GT and TT in STAT4 rs7574865 locus. The genotype TT frequency was 20.3% in PBC patients, which was significantly higher than that in control subjects (6.9%, OR = 3.436). The frequencies of allele T were 42.4% and 31.9%, OR was 1.571; genotype TT and allele T were not correlated with serum autoantibodies in PBC patients. Conclusion There is a correlation between polymorphism of STAT4 rs7574865 locus and PBC in Han population in Jiangsu Province.