The association of gene polymorphisms related to inherited thrombophilia with an increased risk of recurrent pregnancy loss

Background Accumulating evidence suggests that inherited thrombophilia may be implicated in the occurrence of recurrent pregnancy loss (RPL) via adversely affecting the placental vascular function. We aimed to investigate the possible association of MTHFR (rs۱۸۰۱۱۳۳ and rs۱۸۰۱۱۳۱), FV rs۶۰۲۵, FII rs۱۷۹۹۹۶۳ and PAI-۱ rs۱۷۹۹۸۸۹ polymorphisms with increased risk of RPL. Material and methods A total of ۳۲۰ women with a history of at least two consecutive miscarriages and ۱۰۰ healthy controls were included in the study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used for genotyping of the studied single nucleotide polymorphisms (SNPs). Using logistic regression analysis, odds ratio (OR) and ۹۵% confidence interval (۹۵% CI) were calculated to determine the association between the SNPs and RPL, under co-dominant, dominant and recessive inheritance models. Results The results showed that rs۱۸۰۱۱۳۳ (OR: ۲.۱۵۸; ۹۵% CI: ۱.۳۱۰-۳.۵۵۳; P = ۰.۰۰۲) was significantly associated with increased risk of RPL, under dominant inheritance model. We also found that rs۱۷۹۹۸۸۹ was related to a high risk of RPL in co-dominant, dominant and recessive inheritance models. MTHFR rs۱۸۰۱۱۳۳ T and PAI-۱ rs۱۷۹۹۸۸۹ ۴G alleles were found to be significantly more prevalent in RPL patients compared to healthy controls (P < ۰.۰۵). Conclusion These data provide strong evidence that rs۱۸۰۱۱۳۳ and rs۱۷۹۹۸۸۹ SNPs were significantly associated with increased risk of RPL, suggesting their potential role in RPL pathogenesis.  

کلیدواژه ها:

MTHFR C۶۷۷T ، MTHFR A۱۲۹۸C ، FV G۱۶۹۱A ، FII G۲۰۲۱۰A ، PAI-۱ -۶۷۵ ۴G/۵G ، Recurrent pregnancy loss