Marakhovskaya Tatiana Alekseevna, Butenko Elena Viktorovna, Kovalenko Konstantin Alekseevich, Mashkina Elena Vladimirovna
- Department of Genetics, Southern Federal University, Rostov-on-Don, Russia.
J Reprod Infertil. 2018 Oct-Dec;19(4):219-228.
The study was aimed to investigate the association of V gene polymorphic variants - (rs699947) and - (rs2010963) and gene (rs1800471) and gene expression level with miscarriage in the first trimester.
288 women with different courses of pregnancy and 61 chorionic tissue samples were involved in case-control study. Allele-specific polymerase chain reaction in real time was used for genotyping. Next, gene-gene interactions were analyzed using the multifactor dimensionality reduction method. and genes expression levels were determined by RT-PCR.
It was found that SNP rs699947 was associated with the miscarriage risk change (p=0.05). The genotype was associated with reduced risk of abortion in the first trimester, and the genotype with increased risk. Genotypes and were associated with lowered risk of miscarriage in the first trimester. mRNA level of was significantly higher in decidual tissue compared to chorionic tissue in normally progressing pregnancy (p=0.003). gene expression level was directly correlated with the TGFB1 mRNA level (R=0.60; p=0.038). In pregnancy loss, an inverse relationship was observed (R=-0.76; p=0.028).
The SNP rs699947 is associated with pregnancy loss in the first trimester. The MDR analysis data showed the significant relationship between and genes in two-locus and three-locus models. A change in the ratio of the concentrations of growth factors can disrupt the processes of cell division, apoptosis and angiogenesis processes.
本研究旨在探讨V基因多态性变体 - (rs699947)和 - (rs2010963)以及基因 (rs1800471)与基因表达水平与孕早期流产的关联。
288名有不同妊娠过程的女性和61份绒毛组织样本参与了病例对照研究。采用实时等位基因特异性聚合酶链反应进行基因分型。接下来,使用多因素降维法分析基因 - 基因相互作用。通过RT-PCR测定 和 基因的表达水平。
发现单核苷酸多态性rs699947与流产风险变化相关(p = 0.05)。 基因型与孕早期流产风险降低相关,而 基因型与风险增加相关。 基因型和 基因型与孕早期流产风险降低相关。在正常进展的妊娠中,蜕膜组织中 的mRNA水平显著高于绒毛组织(p = 0.003)。 基因表达水平与TGFB1 mRNA水平直接相关(R = 0.60;p = 0.038)。在妊娠丢失中,观察到相反的关系(R = -0.76;p = 0.028)。
单核苷酸多态性rs699947与孕早期流产相关。多因素降维分析数据显示在两位点和三位点模型中 与 基因之间存在显著关系。生长因子浓度比例的变化可能会破坏细胞分裂、凋亡和血管生成过程。