ABSTRACT. Despite more than a century of intensive study, the mechanisms of successful pregnancy remain unclear. Recent research suggests that NF-κB (nuclear factor kappa B) plays an important role in embryo implantation. In the current study, we aimed to identify SNPs that contribute to genetic susceptibility for recurrent implantation failure (RIF). Thus, we examined the potential associations between RIF and ten SNPs (rs28362491, rs3774932, rs1598856, rs230528, rs230521, rs3774956, rs4648055, rs3774964, rs4648068, and rs3774968) of the NF-κB gene. Participants included 209 patients with RIF and 395 controls. Our results revealed that there were statistically significant differences observed in the allelic and genotypic frequencies of the rs28362491 promoter in the NF-κB gene. The frequency of the del/ del genotype was significantly higher in RIF patients than in healthy controls (P = 0.004). Compared with healthy controls, the RIF patients carried a higher frequency of the rs28362491 del allele (P = 0.010). Furthermore, strong linkage disequilibrium was observed in the three identified haplotype blocks (D' > 0.9). Particularly, in block 1 (rs230528-rs230521), the A-C haplotype occurred significantly more frequently (P = 0.029) in subjects with RIF (P = 0.0003). In contrast, the A-G haplotype occurred significantly less frequently (P = 0.008) in RIF subjects. These findings support an important role for G-712A polymorphisms of NF-κB in RIF, and may guide future studies that aim to characterize genetic risk factors for RIF.
ABSTRACT. MicroRNAs (miRNAs) are key regulators of gene expression and play an important role in the development and progression of various diseases including esophageal squamous cell carcinoma (ESCC). In this study, we determined whether a polymorphism at the miR-214 binding site in the 3'-untranslated region (3'-UTR) of the methylenetetrahydrofolate reductase gene (MTHFR) is associated with susceptibility to ESCC. A total of 448 ESCC cases and 460 genderand age-matched subjects were recruited for the study. The genotypes of the rs114673809 single nucleotide polymorphism (SNP) were determined by polymerase chain reaction sequencing. Associations between genotypes of MTHFR rs114673809 and ESCC risk were determined using logistic regression analyses. In the recessive model, when the MTHFR rs114673809 GG homozygote genotype was used as the reference group, the GA genotype was not associated with the risk of ESCC (GA vs GG: OR = 1.261, 95%CI = 0.960-1.657, P = 0.110), but the AA genotype was associated with increased risk of ECSS (AA vs GG: OR = 1.752, 95%CI = 1.076-2.853, P = 0.027). Additionally, the rs114673809 A allele carriers also showed a 1.286-fold increased ESCC risk compared with those carrying the rs114673809 G allele genotype. Furthermore, we observed a significant increase in plasma homocysteine levels in ESCC cases carrying the AA genotype relative to ESCC cases carrying the GG genotype. Our data demonstrate that a polymorphism at the miR-214 binding site in the 3'-UTR of MTHFR is an ESCC susceptibility SNP in the Chinese population.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.