Kadivnik Mirta, Plečko Deni, Kralik Kristina, Arvaj Nena, Wagner Jasenka
Clinic of Obstetrics and Gynecology, University Hospital Center Osijek, J. Huttlera 4, 31000 Osijek, Croatia.
Department of Obstetrics and Gynecology, Faculty of Medicine, J.J. Strossmayer University, J. Huttlera 4, 31000 Osijek, Croatia.
J Clin Med. 2024 Apr 21;13(8):2429. doi: 10.3390/jcm13082429.
The association of gene variants for (rs1800796), (rs1800896) and (rs1800629) with the occurrence of spontaneous preterm birth (PTB) was investigated to determine whether these genetic variants are a risk factor. A total of 199 blood samples from pregnant women who had given birth prematurely and 200 control blood samples were analyzed to determine single nucleotide polymorphisms (SNPs) of genes for (rs1800796), (rs1800896) and (rs1800629). The control samples were samples from pregnant women with term delivery. The isolation of DNA was performed on mini-spin columns according to the manufacturer's protocol. The quality and purity of the isolated DNA were tested using a Qubit 3 fluorometer. Genotyping was performed with an ABI PRISM 7500 SDS using TaqMan SNP genotyping assays. The genotypes obtained were analyzed using the 7500 Software v2.3 package. Carriers of the A/A genotype for the rs1800629 SNP of the gene have a 4.81 times greater chance of late-onset PTB compared to carriers of the G/G and A/G genotypes in the recessive inheritance model. The presence of the G/G genotype in the recessive inheritance model compared with the G/A and A/A genotypes for the rs1800896 SNP of the gene represents a potentially protective factor, with mothers in the term-birth group having an almost 2-fold lower odds of PTB in general and an almost 10-fold lower odds of early PTB. On the other hand, carriers of the A/G genotype of rs1800896 have a 1.54-fold higher chance of preterm birth in general and a 1.6-fold higher chance of late preterm birth in the superdominant inheritance model compared to the A/A and G/G genotypes in the group of mothers with PTB. In this study, no association was found between PTB and the rs1800796 SNP of the gene. rs1800629 in mothers was associated with PTB. rs1800896 shows a potentially protective effect for the occurrence of PTB in this study. No association was found between PTB and rs1800796.
研究了基因（rs1800796）、基因（rs1800896）和基因（rs1800629）的变异与自发性早产（PTB）发生之间的关联，以确定这些基因变异是否为风险因素。共分析了199例早产孕妇的血样和200例对照血样，以确定基因（rs1800796）、基因（rs1800896）和基因（rs1800629）的单核苷酸多态性（SNP）。对照样本来自足月分娩的孕妇。根据制造商的方案，在微型离心柱上进行DNA提取。使用Qubit 3荧光计检测提取DNA的质量和纯度。使用TaqMan SNP基因分型检测法在ABI PRISM 7500 SDS上进行基因分型。使用7500 Software v2.3软件包分析获得的基因型。在隐性遗传模型中，基因rs1800629 SNP的A/A基因型携带者发生晚期早产的几率比G/G和A/G基因型携带者高4.81倍。在隐性遗传模型中，与基因rs1800896 SNP的G/A和A/A基因型相比，G/G基因型的存在代表了一个潜在的保护因素，足月分娩组的母亲总体上发生PTB的几率低近2倍，早期PTB的几率低近10倍。另一方面，在隐性遗传模型中，与早产母亲组中的A/A和G/G基因型相比，rs1800896的A/G基因型携带者总体上早产的几率高1.54倍，晚期早产的几率高1.6倍。在本研究中，未发现PTB与基因的rs1800796 SNP之间存在关联。母亲中的rs1800629与PTB有关。在本研究中，rs1800896对PTB的发生显示出潜在的保护作用。未发现PTB与rs1800796之间存在关联。
