Data_Sheet_1_Integrating Transcriptome-Wide Association Study and mRNA Expression Profiling Identifies Novel Genes Associated With Osteonecrosis of the Femoral Head.docx

ObjectiveThis study aims to identify novel candidate genes associated with osteonecrosis of the femoral head (ONFH).MethodsA transcriptome-wide association study (TWAS) was performed by integrating the genome-wide association study dataset of osteonecrosis (ON) in the UK Biobank with pre-computed mRNA expression reference weights of muscle skeleton (MS) and blood. The ON-associated genes identified by TWAS were further subjected to gene ontology (GO) analysis by the DAVID tool. Finally, a trans-omics comparative analysis of TWAS and genome-wide mRNA expression profiling was conducted to identify the common genes and the GO terms shared by both DNA-level TWAS and mRNA-level expression profile for ONFH.ResultsTWAS totally identified 564 genes that were with PTWAS value

本研究旨在鉴定与股骨头坏死（ONFH）相关的新型候选基因。研究方法包括通过整合英国生物样本库中股骨头坏死（ON）的全基因组关联研究（GWAS）数据集与预先计算的肌肉骨骼（MS）和血液的mRNA表达参考权重，进行转录组关联研究（TWAS）。通过DAVID工具对TWAS识别的与ON相关的基因进行基因本体（GO）分析。最后，通过进行TWAS与全基因组mRNA表达谱的跨组学比较分析，以识别ONFH在DNA水平TWAS和mRNA水平表达谱中共同的基因和GO术语。研究结果共识别出564个与PTWAS值相关的基因。