Taşdelen Elifcan, Kutlay Nüket Yürür, Kaplan İbrahim, Altıner Şule, Alay Mustafa Tarık
Department of Medical Genetics, Ankara University School of Medicine, Ankara Etlik City Hospital, Varlık, Ankara, Turkey.
Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Turkey.
Mol Biol Rep. 2025 Jun 4;52(1):548. doi: 10.1007/s11033-025-10631-y.
Recurrent pregnancy loss (RPL) is a multifactorial disorder, with unexplained causes in 50% of cases, and immune system involvement is suspected. The decidua, a maternal-fetal interface, requires immune cells such as B cells, NK cells, and dendritic cells for a healthy pregnancy. OX40L, expressed in these cells, plays a crucial immune regulatory role. Variations in OX40L (rs1234314 and rs844648) have not yet been studied in RPL patients.
This study aims to investigate the association of these polymorphisms (rs1234314 and rs844648) with RPL in a Turkish population sample and is the first to do so in this regard.
A genetic case-control study was conducted with 195 women who had a history of two or more miscarriages. Allele and genotype frequencies were compared between the RPL group and 135 control women.
No statistically significant differences were observed in allele frequencies for rs1234314 and rs844648 between the RPL and control populations. However, AA carriers of the rs844648 polymorphism were associated with a reduced risk of recurrent pregnancy loss in the recessive model (OR = 2.07, 95% CI = 1.11-3.89, p = 0.02).
This study is the first to examine the genetic association of rs1234314 and rs844648 SNPs of OX40L with RPL in a Turkish population. The significant association of the rs844648 AA genotype with a decreased risk of RPL suggests that this variant may play an important role as a protective factor against RPL, potentially through mechanisms related to immune regulation.
复发性流产（RPL）是一种多因素疾病，50%的病例病因不明，怀疑与免疫系统有关。蜕膜作为母胎界面，健康妊娠需要B细胞、自然杀伤细胞和树突状细胞等免疫细胞。这些细胞中表达的OX40L发挥着关键的免疫调节作用。尚未在RPL患者中研究OX40L的变异（rs1234314和rs844648）。
本研究旨在调查土耳其人群样本中这些多态性（rs1234314和rs844648）与RPL的关联，这在这方面尚属首次。
对195名有两次或更多次流产史的女性进行了一项基因病例对照研究。比较了RPL组和135名对照女性的等位基因和基因型频率。
RPL组和对照组人群中，rs1234314和rs844648的等位基因频率未观察到统计学显著差异。然而，rs844648多态性的AA携带者在隐性模型中与复发性流产风险降低相关（OR = 2.07，95% CI = 1.11 - 3.89，p = 0.02）。
本研究首次在土耳其人群中研究了OX40L的rs1234314和rs844648单核苷酸多态性与RPL的遗传关联。rs844648 AA基因型与RPL风险降低的显著关联表明，该变异可能作为RPL的保护因子发挥重要作用，可能通过与免疫调节相关的机制。
