Abstract: Recurrent pregnancy loss (RPL) is defined as two or more consecutive pregnancy losses
prior to 20 weeks of gestation, and the incidence of RPL is estimated at 1% of all pregnancies.
While the etiologies of RPL are diverse, immune function is considered to be an important cause
of RPL. In particular, the complement system is essential for stable development of the placenta
and fetus. Moreover, complement factor D (CFD) and complement factor H (CFH) are important
regulators of the complement system and are associated with diseases, such as age-related macular
degeneration. Therefore, we investigated whether polymorphisms of CFD and CFH are associated
with RPL in 412 women with RPL and 384 control women. Genotyping of three polymorphisms
(CFD rs2230216, CFH rs1065489, and CFH rs1061170) was performed by TaqMan probe real-time
PCR and PCR-restriction fragment length polymorphism. Association of three polymorphisms with
RPL was evaluated by statistical analysis. The GT/TC genotype combination of CFH rs1065489
G>T/CFH rs1061170 T>C was associated with a decreased risk of RPL occurrence compared with
reference genotypes (adjusted odds ratio [AOR] = 0.439; 95% confidence interval [CI] = 0.238–0.810;
p = 0.008), and this association remained significant after adjustment for multiple comparisons using
false discovery rate (FDR) correction (p = 0.040). In addition, the CFH rs1065489G>T polymorphism
is associated with homocysteine and prolactin level and CFH rs1061170 TC genotype is related to uric
acid and triglycerides level in RPL patients. Therefore, those factors could be possible clinical risk
factors in RPL patients