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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.
Molecular Biology Reports
|June 4, 2025
Summary
Genetic variations in OX40L were studied in recurrent pregnancy loss (RPL). The rs844648 AA genotype showed a protective effect, suggesting a role in immune regulation for a healthy pregnancy.
Area of Science:
- Immunogenetics
- Reproductive Medicine
- Human Genetics
Background:
- Recurrent pregnancy loss (RPL) is a complex condition with unknown causes in 50% of cases, often involving immune system dysregulation.
- The decidua, crucial for pregnancy, relies on immune cells expressing OX40L, a key immune regulator.
- Genetic variations in OX40L (rs1234314, rs844648) have not been previously investigated in RPL.
Purpose of the Study:
- To investigate the association between OX40L polymorphisms (rs1234314 and rs844648) and recurrent pregnancy loss (RPL).
- This study is the first to examine these specific OX40L variants in a Turkish population sample concerning RPL.
Main Methods:
- A genetic case-control study design was employed.
- The study included 195 women with a history of two or more miscarriages (cases) and 135 control women.
- Allele and genotype frequencies of OX40L rs1234314 and rs844648 were compared between groups.
Main Results:
- No significant differences in allele frequencies for rs1234314 and rs844648 were found between RPL patients and controls.
- However, the AA genotype of the rs844648 polymorphism was associated with a reduced risk of RPL (OR=2.07, p=0.02) under a recessive model.
Conclusions:
- This is the first study to explore the genetic link between OX40L SNPs (rs1234314, rs844648) and RPL in a Turkish cohort.
- The rs844648 AA genotype appears to be a protective factor against RPL, potentially via immune regulatory pathways.
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