Abstract

Recurrent pregnancy loss (RPL) is a multifactorial disorder that remains idiopathic in 50 of the cases. The aim of this study was to investigate the association between MTHFD1 as well as eNOS polymorphisms with idiopathic RPL. In a case-control study, 100 women with idiopathic recurrent pregnancy loss (PRL) and 50 controls referred to Noor Laboratory, Khoozestan, Iran, were evaluated. Genotyping of eNOSG894T and MTHFD1 G1958A variants was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Results were compared between the two groups. The allele and genotype frequency of MTHFD1 G1958A variant as well as the allele frequency of eNOSG894G were not significantly different between the two groups while eNOSG894T genotype was significantly different between idiopathic RPL group and controls. Endothelial NOS G894T heterozygous (GT) genotype caused a 2.82 fold increase in the risk of idiopathic RPL compared to GG genotype. eNOS G894T variant is significantly associated with the risk of idiopathic RPL while there is no such association for MTHFD1 G1958A variant in the Iranian population. © 2016, Iranian Neurogenetics Society. All rights reserved.