Faraji Maryam, Roshanaei Kambiz, Afkhami Hamed, Heidarieh Nasrin
Department of Biology, Qo.C., Islamic Azad University, Qom, Iran.
Cellular and Molecular Research Center, Qom University of Medical Sciences, Qom, Iran.
Biochem Biophys Rep. 2025 Mar 31;42:101997. doi: 10.1016/j.bbrep.2025.101997. eCollection 2025 Jun.
Polycystic ovary syndrome (PCOS) is a complex endocrine disorder with both genetic and environmental components. Recent studies have highlighted the potential role of microRNAs (miRNAs) and single nucleotide polymorphisms (SNPs) in its pathogenesis. This study aimed to investigate the association of three SNPs (rs2252673, rs2272046, and rs1894116) in the , , and genes, respectively, with PCOS, as well as the expression levels of miR-155, miR-383, and miR-9 in Iranian patients.
We included 100 PCOS patients and 100 healthy controls. DNA and RNA were extracted from blood samples. SNP genotyping was performed using tetra-primer ARMS-PCR, while miRNA expression levels were quantified using quantitative reverse transcription PCR (qRT-PCR). Logistic regression and ANOVA tests were used for statistical analysis, and Pearson's correlation test (PcT) was applied to assess relationships between miRNA expression profiles.
No significant associations were observed between the investigated SNPs (rs2252673, rs2272046, and rs1894116) and PCOS risk. However, logistic regression analysis revealed a significant difference for rs1894116 under dominant (P = 0.045) and recessive (P = 0.001) models. Notably, the expression levels of miR-155, miR-383, and miR-9 were significantly upregulated in PCOS patients compared to controls, with fold changes of 13.5, 4.13, and 10.7, respectively (P < 0.05).
This study has several limitations, including the relatively small sample size (n = 100 per group) and the ethnic-specific nature of the population studied, which may limit generalizability to other populations.
Our findings suggest that miR-155, miR-383, and miR-9 are significantly upregulated in Iranian PCOS patients, highlighting their potential as biomarkers or therapeutic targets. However, no significant associations were found between the investigated SNPs and PCOS risk. Future studies with larger, multi-ethnic cohorts are warranted to validate these findings and explore the molecular mechanisms underlying the roles of these miRNAs in PCOS pathophysiology.
多囊卵巢综合征（PCOS）是一种具有遗传和环境因素的复杂内分泌紊乱疾病。近期研究强调了微小RNA（miRNA）和单核苷酸多态性（SNP）在其发病机制中的潜在作用。本研究旨在分别探究位于 、 和 基因上的三个SNP（rs2252673、rs2272046和rs1894116）与PCOS的关联，以及伊朗患者中miR - 155、miR - 383和miR - 9的表达水平。
我们纳入了100例PCOS患者和100例健康对照。从血液样本中提取DNA和RNA。使用四引物扩增阻滞突变系统聚合酶链反应（tetra - primer ARMS - PCR）进行SNP基因分型，同时使用定量逆转录聚合酶链反应（qRT - PCR）对miRNA表达水平进行定量。采用逻辑回归和方差分析进行统计分析，并应用Pearson相关检验（PcT）评估miRNA表达谱之间的关系。
在所研究的SNP（rs2252673、rs2272046和rs1894116）与PCOS风险之间未观察到显著关联。然而，逻辑回归分析显示，在显性（P = 0.045）和隐性（P = 0.001）模型下，rs1894116存在显著差异。值得注意地是，与对照组相比，PCOS患者中miR - 155、miR - 383和miR - 9的表达水平显著上调，倍数变化分别为13.5、4.13和10.7（P < 0.05）。
本研究存在一些局限性，包括样本量相对较小（每组n = 100）以及所研究人群的种族特异性，这可能会限制其对其他人群的普遍性。
我们的研究结果表明，在伊朗PCOS患者中miR - 155、miR - 383和miR - 9显著上调，突出了它们作为生物标志物或治疗靶点的潜力。然而，在所研究的SNP与PCOS风险之间未发现显著关联。未来需要更大规模的多民族队列研究来验证这些发现，并探索这些miRNA在PCOS病理生理学中作用的分子机制。
