Cherouveim Panagiotis, Mavrogianni Despoina, Drakaki Eirini, Potiris Anastasios, Zikopoulos Athanasios, Papamentzelopoulou Myrto, Kouvoutsaki Konstantina, Machairiotis Nikolaos, Karampitsakos Theodoros, Skentou Chara, Domali Ekaterini, Vrachnis Nikolaos, Drakakis Peter, Stavros Sofoklis
Division of Reproductive Endocrinology and Infertility, Obstetrics and Gynecology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
First Department of Obstetrics and Gynecology, Alexandra Hospital, Medical School of the National and Kapodistrian University of Athens, 11528 Athens, Greece.
J Clin Med. 2023 Sep 13;12(18):5944. doi: 10.3390/jcm12185944.
rs4977574 gene polymorphism has been associated with arterial thrombosis and cardiovascular disease development. rs4977574 gene polymorphism could also be associated with recurrent pregnancy loss (RPL) since there is increasing evidence in favor of a potential shared pathophysiological mechanism with cardiovascular disease, potentially through arterial thrombosis. This study's goal is to investigate the differences in rs4977574 gene polymorphism between women with and without RPL, if any, as well as a potential association with the number of pregnancy losses.
DNA was isolated from peripheral blood samples, and the sequence containing the polymorphism of interest was amplified with PCR. Results were visualized under UV light following electrophoresis in 3% agarose gel with ethidium bromide. rs4977574 (A>G) prevalence was compared between 56 women with and 69 without RPL. Results were adjusted for women's age and BMI, while a stratified analysis was performed according to number of pregnancy losses.
Allele A was significantly more prevalent in the control group compared to RPL women [31 (44.9%) vs. 14 (25%), = 0.021]. Although not reaching statistical significance, a gradually decreasing prevalence of allele A with an increasing number of pregnancy losses was observed [31 (44.9%) in control, eight (30.7%) with two, six (23.1%) with three, and 0 (0.0%) with four pregnancy losses, = 0.078]. Results were also similar following adjustment.
This is the first study that demonstrates an association between RPL presence and rs4977574 gene polymorphism (lower prevalence of allele A), while a difference according to the number of pregnancy losses cannot be excluded.
rs4977574基因多态性与动脉血栓形成及心血管疾病的发展有关。rs4977574基因多态性也可能与复发性流产（RPL）有关，因为越来越多的证据支持其与心血管疾病存在潜在的共同病理生理机制，可能是通过动脉血栓形成。本研究的目的是调查有RPL和无RPL的女性之间rs4977574基因多态性的差异（若有），以及与流产次数的潜在关联。
从外周血样本中分离DNA，并用PCR扩增包含感兴趣多态性的序列。在含有溴化乙锭的3%琼脂糖凝胶中进行电泳后，在紫外光下观察结果。比较了56例有RPL和69例无RPL女性的rs4977574（A>G）患病率。结果根据女性的年龄和BMI进行了调整，同时根据流产次数进行了分层分析。
与有RPL的女性相比，等位基因A在对照组中的患病率显著更高[31例（44.9%）对14例（25%），P = 0.021]。尽管未达到统计学意义，但观察到随着流产次数增加，等位基因A的患病率逐渐降低[对照组中为31例（44.9%），两次流产者中为8例（30.7%），三次流产者中为6例（23.1%），四次流产者中为0例（0.0%），P = 0.078]。调整后结果也相似。
这是第一项证明RPL的存在与rs4977574基因多态性（等位基因A患病率较低）之间存在关联的研究，同时不能排除根据流产次数存在差异的可能性。
