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Background <p>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. <i>OX40L</i>, expressed in these cells, plays a crucial immune regulatory role. Variations in <i>OX40L</i> (rs1234314 and rs844648) have not yet been studied in RPL patients.</p> Objective <p>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.</p> Methods <p>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.</p> Results <p>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).</p> Conclusion <p>This study is the first to examine the genetic association of rs1234314 and rs844648 SNPs of <i>OX40L</i> 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.</p>

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Association between OX40L rs1234314 and rs844648 polymorphisms and unexplained recurrent pregnancy loss

  • 期刊论文

  • 发表日期：

    2025年6月4日

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  • Elifcan Taşdelen,
  • Nüket Yürür Kutlay,
  • İbrahim Kaplan,
  • Şule Altıner,
  • Mustafa Tarık Alay

摘要

Background

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.

Objective

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.

Methods

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.

Results

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).

Conclusion

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.