TGFβ1信号通路相关基因多态性与不明原因复发性自然流产的相关性  

Correlation between TGFβ1 signaling pathway-related gene polymorphisms and unexplained recurrent spontaneous abortion

作　　者：康卫卫 周娟 KANG Weiwei;ZHOU Juan(Center for Reproductive Medicine,Department of Obstetrics and Gynaecology,The Second Afiliated Hospital of The Chinese People’s Liberation Army Air Force Military Medical University,Xi’an,Shaanxi 710032,China)

机构地区：[1]中国人民解放军空军军医大学第二附属医院妇产科生殖医学中心,陕西西安710032

出　　处：《中国优生与遗传杂志》2024年第12期2546-2551,共6页Chinese Journal of Birth Health & Heredity

基　　金：陕西省医学科学研究重点课题计划(2020JM1232)。

摘　　要：目的探讨转化生长因子β1(TGFβ1)信号通路相关基因多态性与不明原因复发性自然流产(URSA)的相关性。方法选取2021年1月至2024年1月中国人民解放军空军军医大学第二附属医院收治的394例URSA患者作为URSA组,同期健康女性200例作为对照组。通过HapMap PhaseⅡ数据库筛选TGFβ1信号通路相关基因,采用飞行质谱仪检测白细胞介素6(IL-6)基因174G/C、IL-6基因572G/C(rs1800796)、肿瘤坏死因子α(TNF-α)基因308G/A、小母亲抗肢瘫同系物1(SMAD1)基因c.149(exon7)A/C、TGFβ1基因509T/C、TGFβ1基因c.328C/T、TGFβ1基因c.133C/T位点的单核苷酸多态性。通过多因素Logistic回归分析IL-6基因174G/C位点、TGFβ1基因509T/C位点与URSA的相关性。结果URSA组IL-6基因174G/C位点的GG基因型、G等位基因和TGFβ1基因509T/C位点的CC基因型、C等位基因频率低于对照组,IL-6基因174G/C位点的CC基因型、TGFβ1基因509T/C位点的TT基因型频率高于对照组(P<0.05)。IL-6基因174G/C的GG基因型、G等位基因和TGFβ1基因509T/C的CC基因型、C等位基因为URSA发生的独立保护因素,IL-6基因174G/C的CC基因型和TGFβ1基因509T/C的TT基因型为URSA发生的独立危险因素(P<0.05)。结论TGFβ1信号通路中IL-6基因174G/C位点GG基因型、G等位基因和TGFβ1基因509T/C的CC基因型、C等位基因能降低URSA易感风险,而IL-6基因174G/C的CC基因型和TGFβ1基因509T/C的TT基因型会增加URSA易感风险。Objective To explore the correlation between transforming growth factorβ1(TGFβ1)signaling pathway-related gene polymorphisms and unexplained recurrent spontaneous abortion(URSA).Methods A total of 394 patients with URSA treated in the Second Affiliated Hospital of The Chinese People’s Liberation Army Air Force Military Medical University,People’s Liberation Army from January 2021 to January 2024 were selected as the URSA group,and 200 healthy women during the same period were selected as the control group.Genes related to the TGFβ1 signaling pathway were screened using the HapMap PhaseⅡdatabase,and single nucleotide polymorphisms were detected by mass spectrometry.The SNPs analyzed included interleukin-6(IL-6)gene 174G/C,IL-6 gene 572G/C(rs1800796),tumor necrosis factor-alpha(TNF-α)gene 308G/A,SMAD1 gene c.149(exon7)A/C,TGFβ1 gene 509T/C,TGFβ1 gene c.328C/T,and TGFβ1 gene c.133C/T.Multivariate logistic regression was used to analyze the correlation between the IL-6 gene 174G/C and TGFβ1 gene 509T/C and the occurrence of URSA.Results In the URSA group,the GG genotype and G allele frequencies of IL-6 gene 174G/C,as well as the CC genotype and C allele frequencies of TGFβ1 gene 509T/C,were lower than those in the control group.Conversely,the frequency of the CC genotype of IL6 gene 174G/C and the TT genotype of TGFβ1 gene 509T/C were higher in the URSA group compared to the control group(P<0.05).The GG genotype and G allele of IL6 gene 174G/C,as well as the CC genotype and C allele of TGFβ1 gene 509T/C,were independent protective factors against URSA,while the CC genotype of IL6 gene 174G/C and TT genotype of TGFβ1 gene 509T/C were independent risk factors for URSA(P<0.05).Conclusion The GG genotype and G allele of IL6 gene 174G/C,and the CC genotype and C allele of TGFβ1 gene 509T/C in the TGFβ1 signaling pathway may reduce the susceptibility to URSA.In contrast,the CC genotype of IL6 gene 174G/C and TT genotype of TGFβ1 gene 509T/C increase the risk of URSA.

关 键 词：不明原因复发性自然流产 转化生长因子Β1 基因多态性 白细胞介素6 

分 类 号：R714.21[医药卫生—妇产科学]