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基于生物信息学和机器学习的生物标志物的鉴定,与经更年期后骨质疏松症患者的诊断相关

Xinzhou Huang¹, Jinliang Ma², Yongkun Wei¹

¹Department of Orthopedics, 3201 Hospital of Xi'an Jiaotong University Health Science Center, Hanzhong, China.

Frontiers in genetics

|July 19, 2023

概括

研究人员确定ACACB和WWP1是绝经后骨质疏松症 (PMOP) 的新型遗传标记. 这些发现可能会为这种常见的骨病带来新的诊断工具和免疫疗法.

科学领域:

遗传学遗传学是一个
代谢性骨疾病代谢性骨疾病
免疫学免疫学免疫学

背景情况:

绝经后骨质疏松症 (PMOP) 是一种普遍的慢性代谢性骨疾病.
导致PMOP的精确分子机制尚未完全理解.
识别可靠的诊断标记对于有效的管理至关重要.

研究的目的:

发现绝经后骨质疏松症 (PMOP) 的新型遗传诊断标志物.
阐明涉及PMOP病变的潜在分子通路.
探索PMOP和免疫细胞透之间的关系.

主要方法:

结合了三个基因表达集 (GEO) 数据集,以识别差异表达基因 (DEG).
利用LASSO和高斯混合模型机器学习算法进行基因选择.
构建了一个竞争的内源RNA (ceRNA) 网络,进行甲基化和免疫透分析.
在使用qPCR的24个临床样本中验证了候选生物标志物 (ACACB,WWP1).

主要成果:

在PMOP中鉴定了34个DEG,它们与氨基酸合成,炎症和亡相关的途径进行丰富.
揭示了涉及XIST,miRNA和目标基因WWP1/ACACB的潜在RNA调节通路.
通过数据集和临床样本验证,确认ACACB和WWP1是PMOP的诊断基因.
在ACACB,WWP1和免疫细胞 (T,B,NK细胞) 之间发现了显著的关联.

结论:

确定ACACB和WWP1作为绝经后骨质疏松症的关键诊断基因.
这些基因可以作为PMOP诊断和预后的潜在生物标志物.
这些发现表明PMOP的潜在免疫治疗点.

关键词:

基因表达总体 RNA调节途径的RNA调节途径诊断诊断诊断诊断诊断诊断机器学习是机器学习.绝经后的骨质疏松症

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