Association of Complement Factor D and H Polymorphisms with Recurrent Pregnancy Loss

Area of Science:

• Immunogenetics
• Reproductive Medicine
• Genetics

Background:

• Recurrent pregnancy loss (RPL) affects 1% of pregnancies and is often linked to immune system dysfunction.
• The complement system, regulated by complement factor D (CFD) and complement factor H (CFH), is crucial for placental and fetal development.
• Genetic variations in CFD and CFH may influence RPL susceptibility.

Purpose of the Study:

• To investigate the association between specific polymorphisms in CFD and CFH genes and the risk of recurrent pregnancy loss (RPL).
• To explore potential clinical risk factors related to these genetic variations in women with RPL.

Main Methods:

• Genotyping of three polymorphisms (CFD rs2230216, CFH rs1065489, CFH rs1061170) in 412 women with RPL and 384 controls.
• Utilized TaqMan probe real-time PCR and PCR-restriction fragment length polymorphism for genotyping.
• Statistical analysis, including false discovery rate (FDR) correction, was employed to evaluate associations.

Main Results:

• A combined genotype of CFH rs1065489 G>T and CFH rs1061170 T>C was significantly associated with a reduced risk of RPL (AOR = 0.439, p = 0.008), remaining significant after FDR correction (p = 0.040).
• The CFH rs1065489 G>T polymorphism correlated with homocysteine and prolactin levels.
• The CFH rs1061170 TC genotype was linked to uric acid and triglyceride levels in RPL patients.

Conclusions:

• Specific CFH gene polymorphisms may offer protective effects against recurrent pregnancy loss.
• CFH rs1065489 and CFH rs1061170 variations are associated with biochemical markers that could serve as potential clinical risk factors in RPL.
• Further research into these genetic and clinical links could inform RPL management.