發(fā)布時間：2018-03-13 10:23

  本文選題：信號轉(zhuǎn)導(dǎo)子和轉(zhuǎn)錄活化子　切入點：rs　出處：《細胞與分子免疫學(xué)雜志》2017年04期 　論文類型：期刊論文

【摘要】：目的探討信號轉(zhuǎn)導(dǎo)子與轉(zhuǎn)錄活化子4(STAT4)基因rs7574865位點單核苷酸多態(tài)性(SNP)與江蘇地區(qū)漢族人群原發(fā)性膽汁性肝硬化(PBC)的相關(guān)性。方法收集江蘇省常州三院住院的PBC患者138例和116例無血緣關(guān)系健康人群外周血標本。采用聚合酶鏈反應(yīng)-序列特異性引物(PCR-SSP)法檢測STAT4基因rs7574865位點的基因型,使用χ2檢驗對兩組人群中基因型及等位基因頻率的分布進行比較,明確該基因位點是否為PBC易感位點;并分析該位點與PBC患者血清抗線粒體M2(AMA-M2)抗體、抗核抗體(ANA)、抗著絲粒蛋白B(Cenp B)抗體、抗糖蛋白210(GP210)抗體、抗骨架蛋白100(SP100)抗體間的相關(guān)性。結(jié)果 STAT4 rs7574865位點存在GG、GT、TT三種基因型,基因型TT在PBC患者中的頻率為20.3%,明顯高于對照組的6.9%,OR為3.436,等位基因T的頻率分別為42.4%和31.9%,OR為1.571;基因型TT和等位基因T與PBC患者血清自身抗體間不存在相關(guān)性。結(jié)論江蘇地區(qū)漢族人群STAT4 rs7574865基因位點多態(tài)性與PBC存在相關(guān)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.
【作者單位】： 江蘇大學(xué)醫(yī)學(xué)院;常州市第三人民醫(yī)院檢驗科;
【基金】：常州市社會發(fā)展科技計劃項目(CJ20122015)
【分類號】：R575.22
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本文編號：1605973