Meiotic gene expression of STAG3 and DMC1 in blood: A novel non-invasive biomarker approach for diminished ovarian reserve: A case-control study.

BackgroundDiminished ovarian reserve (DOR) is a major cause of female infertility, marked by reduced oocyte quantity and quality. STAG3 and DMC1 are meiosis-specific genes essential for chromosomal integrity and homologous recombination. While their downregulation in granulosa cells of DOR women has been reported, expression in peripheral blood remains unexplored.ObjectiveTo evaluate peripheral blood STAG3 and DMC1 expression as potential non-invasive biomarkers in DOR.Materials and methodsThis case-control study included 50 women at Yazd Research Institute, Yazd, Iran, comprising 25 DOR women (anti-Müllerian hormone < 1.1 ng/mL) and 25 age-matched controls. Peripheral blood mononuclear cells were isolated, RNA extracted by column-based silica method, and gene expression analyzed by quantitative real-time polymerase chain reaction using the 2 ∧ - Δ Ct method.ResultsDemographic analysis revealed no significant differences in age or body mass index between DOR women and controls. As expected, anti-Müllerian hormone levels (0.61 vs. 2.12 ng/mL) and antral follicle counts (3.52 vs. 8.64) were significantly lower in the DOR group. Quantitative real-time polymerase chain reaction analysis revealed a significant downregulation of STAG3 expression in peripheral blood mononuclear cells of DOR women compared with controls (p = 0.0011). DMC1 expression showed a downward trend but did not reach statistical significance (p = 0.1132). These results suggest a potential role of STAG3 dysregulation in DOR pathogenesis.ConclusionThese findings indicate differential expression of meiotic genes in the peripheral blood of DOR women, supporting STAG3 as a promising non-invasive biomarker for early detection of DOR and contributing to a better understanding of its molecular basis in reproductive medicine.