To explore the biological relationship between the regulatory signal pathways involved in differentially expressed genes and recurrent spontaneous abortion (RSA) by analyzing the gene expression microarray data of unexplained RSA. The gene expression profile data of chorionic villi from unexplained recurrent abortion with normal karyotype and selective induced abortion were compared. Differentially expressed genes were analyzed by the “Limma” package in R Studio, and Gene Ontology(GO) and Kyoto Encyclopedia of Genes and Genomes(KEGG) pathway enrichment analysis were carried out with “Cluster Profiler” and “org.hs.eg.db” packages. Finally, hub genes were identified through constructing the protein-protein interaction (PPI) network from the differentially expressed gene dataset in the STRING database. And the hub genes were verified by RT-PCR. The expression of TH1 and TH2 cytokines representing IL-2, IL-10 and their receptors related to hub gene immune regulation were detected by enzyme-linked immunosorbent assay (ELISA) and western blot (WB), respectively. A total of 295 differentially expressed genes were identified in the dataset GSE22490, with a significance level of P < 0.05 and an absolute log-fold change > 1.0, which included 166 up-regulated genes and 129 down-regulated genes. Go and KEGG enrichment analysis of these differentially expressed genes (P < 0.05,FDR < 0.05) revealed significant involvement in the regulation of inflammatory and immune responses. The PPI analysis revealed that the hub genes FCGR3A, TLR2, BTK, CLEC7A and CD163 were centrally located in the network cluster which were composed of the proteins encoded by differentially expressed genes associated with RSA. The mRNA levels of FCGR3A, TLR2 and CLEC7A in the RSA group were significantly higher than those in the NC group (P < 0.05). The protein expression level of TLR2 was also significantly increased in the RSA group (P < 0.05). The level of IL-2 in the RSA group was significantly higher than that in the NC group (P < 0.05), while the protein expression level of its receptor was not different(P > 0.05). There was no significant difference in the expression levels of IL-10 and its receptor between the two groups (P > 0.05). Abnormal immune response plays an important role in unexplained RSA. The imbalance in immune regulation may be one of the most important reasons behind this phenomenon. These findings provide a foundation for further research into the mechanisms underlying RSA.

Ovarian cancer (OC) represents the most prevalent malignancy of the female reproductive system. Its distinguishing features include a high aggressiveness, substantial morbidity and mortality, and a lack of apparent symptoms, which collectively pose significant challenges for early detection. Given that aberrant DNA methylation events leading to altered gene expression are characteristic of numerous tumor types, there has been extensive research into epigenetic mechanisms, particularly DNA methylation, in human cancers. In the context of OC, DNA methylation is often associated with the regulation of critical genes, such as BRCA1/2 and Ras‑association domain family 1A. Methylation modifications within the promoter regions of these genes not only contribute to the pathogenesis of OC, but also induce medication resistance and influence the prognosis of patients with OC. As such, a more in‑depth understanding of DNA methylation underpinning carcinogenesis could potentially facilitate the development of more effective therapeutic approaches for this intricate disease. The present review focuses on classical tumor suppressor genes, oncogenes, signaling pathways and associated microRNAs in an aim to elucidate the influence of DNA methylation on the development and progression of OC. The advantages and limitations of employing DNA methylation in the diagnosis, treatment and prevention of OC are also discussed. On the whole, the present literature review indicates that the DNA methylation of specific genes could potentially serve as a prognostic biomarker for OC and a therapeutic target for personalized treatment strategies. Further investigations in this field may yield more efficacious diagnostic and therapeutic alternatives for patients with OC.

While physical activity (PA) patterns are epidemiologically linked to gynecologic pathologies, establishing causality remains uncertain. This Mendelian randomization (MR) study evaluated causal relationships between PA phenotypes and gynecologic disorders. Using European-ancestry female genome-wide association study (GWAS) data, we analyzed eight gynecologic disorders and four PA instruments. Primary inverse-variance weighted (IVW) estimates were supplemented by sensitivity analyses (MR-Egger, weighted median, MR-PRESSO) to address pleiotropy and heterogeneity. Our MR revealed subtype-specific effects: walking for pleasure [OR = 0.63, 95% CI: 0.41-0.96], strenuous sports [OR = 0.34, 95% CI: 0.16-0.74], and other exercises [OR = 0.70, 95% CI: 0.49-0.99]) reduced ER⁺ breast cancer (BC) risk, while leisure screen time increased risk (OR = 1.08, 95% CI: 1.004-1.163). Only other exercises protected against ER^- BC (OR = 0.60, 95% CI: 0.38-0.96). Exercise frequency inversely correlated with endometrial cancer (EC) (walking: OR = 0.20; strenuous sports: OR = 0.06; other exercises: OR = 0.41) and endometriosis (ES) (strenuous sports: OR = 0.17; other exercises: OR = 0.26), but was positively associated with sedentary behavior (EC: OR = 1.36). Ovarian cyst (OCS) risk decreased with walking (OR = 0.34) and other exercises (OR = 0.28), yet increased with screen time (OR = 1.23). Paradoxically, walking showed strong positive (OR = 31.48) and strenuous exercise inverse (OR = 0.004) associations with polycystic ovary syndrome (PCOS). No causal links emerged for cervical cancer (CC), ovarian cancer (OC), or uterine fibroids (UF). This first MR evidence demonstrates PA's differential causal effects on gynecologic disorders, particularly highlighting exercise modality-specific protection against ER⁺ BC, EC, and ES. Paradoxical PCOS associations warrant mechanistic investigation. Findings underscore PA as a modifiable preventive factor and advocate for subtype-tailored exercise guidelines in women's health.

This study aimed to investigate the causal relationship between dietary habits and nine common diseases with high female prevalence using a two-sample Mend