Association between microRNA machinery gene polymorphisms and recurrent implantation failure

The present study aimed to investigate the potential association of five miRNA machinery gene polymorphisms ( rs3742330A>G, rs10719T>C, rs14035C>T, rs11077A>C and rs417309G>A) with recurrent implantation failure (RIF), a clinical condition in which good-quality embryos repeatedly fail to implant following two or more fertilization cycles, and its associated risk factors in Korean women. Therefore, the present study performed genotype analysis and assessed the frequency of these miRNA gene polymorphisms in patients diagnosed with RIF (n=119) and randomly selected controls (n=210) with at least one live birth and no history of pregnancy loss. The rs10719T>C and rs14035C>T polymorphisms were identified to be significantly associated with decreased prevalence of RIF. Additionally, the rs10719 TC and the rs14035 CT genotypes were present at significantly lower frequencies in the RIF group than in the control group (adjusted odds ratio=0.550; 95% CI, 0.339-0.893; P=0.016; and adjusted odds ratio=0.590; 95% CI, 0.363-0.958; P=0.033, respectively). Furthermore, the combined rs14035 CT+TT genotype was observed to be associated with decreased RIF prevalence (adjusted odds ratio=0.616; 95% CI, 0.386-0.982; P=0.042). Genotype combination analysis for the various miRNA polymorphisms revealed that the TC genotype exhibited a highly significant negative association with RIF prevalence when combined with the CT genotype (adjusted odds ratio=0.314; 95% CI, 0.147-0.673; P=0.003; false discovery rate-adjusted P=0.023). The present study revealed an association between the rs10719 and rs14035 3'UTR polymorphisms and decreased risk of RIF in Korean women, which suggests that these gene polymorphisms could represent potential markers for predicting RIF risk.