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候选基因和与骨关节炎相关的化学物质的识别,通过全转录组关联研究和化学基因相互作用分析

Lin Mei^1,2, Zhiming Zhang^1,2, Ruiqi Chen^1,2

¹Department of Orthopedics, The Second Xiangya Hospital, Central South University, Changsha, China.

Arthritis research & therapy

|September 25, 2023

概括

这项研究使用全转录组关联研究 (TWAS) 和化学相关基因组丰富分析 (CGSEA) 确定了与骨关节炎 (OA) 相关的基因和环境化学物质. 这些发现提高了对OA的理解.

科学领域:

遗传学和分子生物学
环境健康环境健康
类风湿病学类风湿病学

背景情况:

骨关节炎 (OA) 是一种常见的退行性关节疾病,导致慢性疼痛和残疾,特别是在老年人中.
关键的危险因素包括衰老,肥胖,遗传倾向和环境暴露.
了解OA的遗传和环境基础对于开发有效的干预措施至关重要.

研究的目的:

使用全转录组关联研究 (TWAS) 识别膝盖和关节骨关节炎 (OA) 的易感基因.
通过化学相关基因组丰富分析 (CGSEA) 调查与OA相关的环境因素.
探索涉及OA病变发生的生物功能和途径.

主要方法:

TWAS将膝关节OA (KOA) 和关节OA (HOA) 的全基因组关联研究数据与基因型-组织表达项目的表达数据集成.
用于单组织和跨组织TWAS,采用了FUSION软件,并使用关联测试汇总了结果.
基因和基因组的京都百科全书 (KEGG) 和基因本体学 (GO) 数据库被用于途径分析;人类软骨mRNA配置文件验证了TWAS基因. CGSEA整合了与化学相关的基因组的TWAS结果.

主要成果:

在多个染色体中确定了44个独特的KOA和93个HOA的TWAS基因.
验证的TWAS基因,包括CRHR1,LTBP1,WWP2,LMX1B和PTHLH,在人类软骨中显示出差异性表达.
发现了与OA相关的途径 (例如,TGF-β信号传递,MAPK信号传递,氨酸代谢,淋巴细胞分化) 并确定了45种相关化学物质 (例如,奎尔,双A,化).

结论:

TWAS和CGSEA成功地确定了OA相关的候选基因和化学物质.
这些发现有助于更深入地了解遗传因素,环境暴露和OA发展之间的复杂相互作用.
这项研究为未来对新关节炎预防和治疗策略的研究提供了基础.

关键词:

美国CGSEA.在GWAS中,GWAS就是GWAS.骨关节炎是一种骨关节炎.在TWAS中,TWAS就是TWAS.

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