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Published on: June 21, 2018
Association between OX40L rs1234314 and rs844648 polymorphisms and unexplained recurrent pregnancy loss
Elifcan Taşdelen1,2, Nüket Yürür Kutlay3, İbrahim Kaplan3,4
1Department of Medical Genetics, Ankara University School of Medicine, Ankara Etlik City Hospital, Varlık, Ankara, Turkey. elifcan.tasdelen@saglik.gov.tr.
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.
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