Wujcicka Wioletta Izabela, Kacerovsky Marian, Krygier Adrian, Krekora Michał, Kaczmarek Piotr, Grzesiak Mariusz
Scientific Laboratory of the Center of Medical Laboratory Diagnostics and Screening, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.
Department of Obstetrics and Gynecology, University Hospital Hradec Kralove, Charles University, 500 03 Hradec Kralove, Czech Republic.
Curr Issues Mol Biol. 2022 Jun 30;44(7):2939-2955. doi: 10.3390/cimb44070203.
In this study, we hypothesized that the changes localized at angiopoietin-2 (), granulocyte-macrophage colony-stimulating factor (), fms-related tyrosine kinase 1 () and toll-like receptor () , and genes were associated with spontaneous preterm labor (PTL), as well as with possible genetic alterations on PTL-related coagulation. This case-control genetic association study aimed to identify single nucleotide polymorphisms (SNPs) for the aforementioned genes, which are correlated with genetic risk or protection against PTL in Polish women. The study was conducted in 320 patients treated between 2016 and 2020, including 160 women with PTL and 160 term controls in labor. We found that rs3020221 AA homozygotes were significantly less common in PTL cases than in controls, especially after adjusting for activated partial thromboplastin time (APTT) and platelet (PLT) parameters. TC heterozygotes for rs3804099 were associated with PTL after correcting for anemia, vaginal bleeding, and history of threatened miscarriage or PTL. TC and CC genotypes in rs187084 were significantly less common in women with PTL, compared to the controls, after adjusting for bleeding and gestational diabetes. For the first time, it was shown that three polymorphisms- rs3020221, rs3804099 and rs187084 -were significantly associated with PTL, adjusted by pregnancy development influencing factors.
在本研究中,我们假设定位于血管生成素-2()、粒细胞-巨噬细胞集落刺激因子()、fms相关酪氨酸激酶1()和Toll样受体()以及基因的变化与自发性早产(PTL)相关,也与PTL相关凝血方面可能的基因改变有关。这项病例对照基因关联研究旨在鉴定上述基因的单核苷酸多态性(SNP),这些SNP与波兰女性PTL的遗传风险或保护相关。该研究在2016年至2020年期间接受治疗的320例患者中进行,包括160例PTL女性患者和160例足月分娩对照者。我们发现,rs3020221 AA纯合子在PTL病例中显著少于对照组,尤其是在调整活化部分凝血活酶时间(APTT)和血小板(PLT)参数后。校正贫血、阴道出血以及有先兆流产或PTL病史后,rs3804099的TC杂合子与PTL相关。校正出血和妊娠期糖尿病后,与对照组相比,rs187084的TC和CC基因型在PTL女性中显著较少见。首次表明,经妊娠发育影响因素校正后,rs3020221、rs3804099和rs187084这三种多态性与PTL显著相关。