STAT4基因rs10181656位点的多态性与不明原因复发性自然流产的相关性

Association of rs10181656 Polymorphism in Signal Transducer and Activator of Transcription 4 Gene with Susceptibility to Unexplained Recurrent Spontaneous Abortion

【目的】探讨信号转导与转录激活因子4(STAT4)基因在不明原因复发性自然流产(URSA)表达及其表达量与rs10181656位点多态性的关系。【方法】分别采用聚合酶链反应-限制性片段长度多态性法检测332名URSA患者和260名健康对照者rs10181656位点的基因型频率;应用免疫组织化学技术检测其中的86名URSA患者及77名健康对照者蜕膜STAT4基因的蛋白表达量。【结果】rs10181656C/G:URSA组中C/C、C/G及G/G基因型频率分别是36.45%、46.99%及16.57%,而对照组中的3种基因型的频率分别是46.54%、45.38%及8.08%,具有统计学差异(P<0.05),G等位基因增加URSA组发病风险(OR=1.50,P<0.05)。STAT4蛋白表达量在URSA组和对照组中的差异具有统计学意义(P<0.05);在URSA组内分为C/C、C/G及G/G基因型的三个亚组STAT4蛋白表达:三个亚组的STAT4蛋白表达差异具有统计学意义(P<0.05),在对照组中亦然(P<0.05),具有G/G基因型样本STAT4蛋白高表达于C/C基因型(P均<0.05);相同基因型在URSA组和对照组中STAT4蛋白表达:C/C基因型样本在URSA组和对照组中STAT4蛋白的表达差异无统计学意义(P>0.05),C/G及G/G基因型样本亦然(P>0.05)。【结论】rs10181656位点多态性通过影响STAT4蛋白表达,从而与增加URSA发病风险相关。

[Objective] To investigate associations between the functional polymorphisms of signal transducer and activator of transcription 4 （STAT4） gene and unexplained recurrent spontaneous abortion （URSA） and between STAT4 protein expression and the genotypes of rs 10181656 locus. [ Methods ] PCR-restriction fragment length polymorphism was used to genotype rs 10181656 locus polymorphism in 332 URSA cases and 260 normal controls, in 86 URSA cases and 77 normal controls of which immunohistochemical technique was used to detect STAT4 protein expression. [ Results ] The frequencies of rs10181656 C/G were 36.45 %, 46.54% in gen- otype C/C, 46.99%, 45.38% in genotype C/G and 16.57%, 8.08% in genotype G/G between URSA patients and normal controls. They reached statistical difference （P 〈 0.05）. The carriers of rs 10181656 G allele increased the risk of U RSA （OR = 1.50, P 〈 0.05 ）. STAT4 protein expression in decidual tissues ： @There was statistical difference in the STAT4 protein expression in decidual tissues between cases and controls （P 〈 0.05 ）. In URSA patients there was statistical difference in the STAT4 protein expression among genotype CC, CG and GG of rs10181656 locus （P 〈 0.05）. So was in normal controls （P 〈 0.05）. In genotype CC there was no difference in the STAT4 protein expression between cases and controls （P 〉 0.05）. Neither was In genotype CG and GG respectively （P all 〉 0.05）. [ Conclusion] Functional polymorphisms of the rs10181656 locus could probably associate with the susceptibility of URSA via STAT4 protein expression increased by genotype G/G in maternal decidual tissue.