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用GWAS元分析,生物网络构建和结构建模来研究腹腔大动脉瘤的综合生物信息学框架

Pakorn Sagulkoo^1,2,3, Hathaichanok Chuntakaruk⁴, Apichat Suratanee^5,6

¹Program in Bioinformatics and Computational Biology, Graduate School, Chulalongkorn University, Bangkok, 10330, Thailand.

Scientific reports

|July 2, 2025

概括

这项研究确定了与腹腔大动脉动脉瘤 (AAA) 相关的新型遗传变异和基因,这是一种严重的血管疾病. 它还建议潜在的药物重用策略来治疗AAA,通过向CD40和LRP1.1等关键蛋白来治疗AAA.

科学领域:

基因组学和生物信息学
血管生物学血管生物学
非传染性疾病非传染性疾病

背景情况:

腹腔大动脉瘤 (AAA) 是一种危及生命的血管疾病,死亡率高.
了解AAA的分子基础对于开发有效的查,诊断和治疗策略至关重要.

研究的目的:

通过对全基因组关联研究 (GWASs) 的元分析,识别与AAA相关的新型遗传变异和基因.
探索这些遗传发现的功能影响,并确定AAA的潜在治疗点.

主要方法:

进行了GWAS的元分析,以确定与AAA相关的单核酸多态 (SNP).
利用表达量的特征位点 (eQTL) 和全转录组关联研究 (TWAS) 分析来识别差异表达基因 (DEG).
构建了一个蛋白质-蛋白质相互作用 (PPI) 网络,进行药物重新定位,并使用分子对接验证候选药物.

主要成果:

确定了42个与疾病相关的新型SNP和52个以前未报告的与疾病相关的基因.
突出了包括脂质代谢,组织重塑和乙胆激活在内的关键生物途径.
优先考虑CD40和LRP1作为关键蛋白质,建议abciximab,paclitaxel和ivermectin作为潜在的治疗剂.

结论:

结合基因组学,转录组学,网络生物学和结构建模的综合生物信息学方法为AAA提供了有价值的见解.
确定了新的遗传关联和潜在的治疗策略,包括对AAA治疗的药物重新定位.

关键词:

腹腔大动脉动脉瘤腹腔大动脉动脉瘤生物网络是生物网络.药物重新定位是药物重新定位.全基因组关联研究研究的研究.进行元分析分析.分子对接是分子对接.

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