Integrating transcriptome-wide association study and mRNA expression profile identified candidate genes related to hand osteoarthritis

Autor: Jiawen Xu, Yi Zeng, Haibo Si, Yuan Liu, Mingyang Li, Junfeng Zeng, Bin Shen
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Arthritis Research & Therapy, Vol 23, Iss 1, Pp 1-7 (2021)
Druh dokumentu: article
ISSN: 1478-6362
DOI: 10.1186/s13075-021-02458-2
Popis: Abstract Background Osteoarthritis (OA) is a common skeletal system disease that has been partially attributed to genetic factors. The hand is frequently affected, which seriously affects the patient’s quality of life. However, the pathogenetic mechanism of hand osteoarthritis (hand OA) is still elusive. Methods A genome-wide association study (GWAS) summary of hand OA was obtained from the UK Biobank dataset, which contains data from a total of 452,264 White British individuals, including 37,782 OA patients. The transcriptome-wide association study (TWAS) of hand OA was performed using FUnctional Summary-based ImputatiON (FUSION) with the skeletal muscle and blood as gene expression references. The significant genes identified by TWAS were further subjected to gene set enrichment analysis (GSEA) with the Database for Annotation, Visualization and Integrated Discovery (DAVID) tool. Furthermore, we compared the genes and gene sets identified by our TWAS with that of a knee OA mRNA expression profile to detect the genes and gene sets shared by TWAS and mRNA expression profiles in OA. The mRNA expression profiles of 18 normal knee cartilages and 20 OA knee cartilages were acquired from the Gene Expression Omnibus database (accession number: GSE114007). Results TWAS identified 177 genes with P
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