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探索多囊卵巢综合征中与乙酰化相关的基因标志物:利用机器学习深入了解发病机制和诊断潜力。

Exploring acetylation-related gene markers in polycystic ovary syndrome: insights into pathogenesis and diagnostic potential using machine learning.

机构信息

Shanghai Municipal Hospital of Traditional Chinese Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai, China.

出版信息

Gynecol Endocrinol. 2024 Dec;40(1):2427202. doi: 10.1080/09513590.2024.2427202. Epub 2024 Nov 25.

DOI:10.1080/09513590.2024.2427202
PMID:39585802
Abstract

OBJECTIVE

Polycystic ovary syndrome (PCOS) is a prevalent cause of menstrual irregularities and infertility in women, impacting quality of life. Despite advancements, current understanding of PCOS pathogenesis and treatment remains limited. This study uses machine learning-based data mining to identify acetylation-related genetic markers associated with PCOS, aiming to enhance diagnostic precision and therapeutic efficacy.

METHODS

Advanced machine learning techniques were used to improve the precision of key gene identification and reveal their biological mechanisms. Validation on an independent dataset (GSE48301) confirmed their diagnostic value, assessed through ROC curves and nomograms for PCOS risk prediction. Molecular mechanisms of acetylation-related gene regulation in PCOS were further examined through clustering, immune-environmental, and gene network analyses.

RESULTS

Our analysis identified 15 key acetylation-regulated genes differentially expressed in PCOS, including SGF29, NOL6, KLF15, and INO80D, which are relevant to PCOS pathogenesis. ROC curve analyses on training and validation datasets confirmed the model's high diagnostic accuracy. Additionally, these genes were associated with immune cell infiltration, offering insights into the inflammatory aspect of PCOS.

CONCLUSION

The identified acetylation gene markers offer novel insights into the molecular mechanisms underlying PCOS and hold promise for enhancing the development of precise diagnostic and therapeutic strategies.

摘要

目的

多囊卵巢综合征(PCOS)是女性月经不调和不孕的常见原因,影响生活质量。尽管取得了进展,但目前对 PCOS 发病机制和治疗的理解仍然有限。本研究使用基于机器学习的数据挖掘来识别与 PCOS 相关的乙酰化相关遗传标记,旨在提高诊断精度和治疗效果。

方法

使用先进的机器学习技术来提高关键基因识别的精度,并揭示其生物学机制。在独立数据集(GSE48301)上的验证证实了它们的诊断价值,通过 ROC 曲线和 PCOS 风险预测的 nomogram 进行评估。通过聚类、免疫环境和基因网络分析进一步研究了乙酰化相关基因调控在 PCOS 中的分子机制。

结果

我们的分析确定了 15 个在 PCOS 中差异表达的关键乙酰化调节基因,包括 SGF29、NOL6、KLF15 和 INO80D,它们与 PCOS 的发病机制有关。在训练和验证数据集上的 ROC 曲线分析证实了该模型的高诊断准确性。此外,这些基因与免疫细胞浸润有关,为 PCOS 的炎症方面提供了新的见解。

结论

所鉴定的乙酰化基因标记为 PCOS 的分子机制提供了新的见解,并为开发精确的诊断和治疗策略提供了希望。

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