NDLI: Transcriptome-wide association study identifies new susceptibility genes and pathways for spondyloarthritis

Content Provider	Springer Nature : BioMed Central
Author	Su, Xiaochen Chen, Anfa Teng, Menghao Ji, Wenchen Zhang, Yingang
Abstract	Background Spondyloarthritis (SpA) is a group of multifactorial bone diseases influenced by genetic factors, the environment and lifestyle. However, current studies have found a limited number of SpA-related genes, and the genetic and pathogenic mechanisms of SpA are still unclear. Methods A tissue-specific transcriptome-wide association study (TWAS) of SpA was performed using GWAS (including 3966 SpA patients and 448,298 controls) summary data and gene expression weights of whole blood and skeletal muscle. The SpA-associated genes identified by TWAS were further compared with the differentially expressed genes (DEGs) identified in the SpA gene expression profile acquired from the Gene Expression Omnibus database (GEO, GSE58667). Finally, functional enrichment and annotation analyses of the identified genes were performed. Results The TWAS detected 499 suggestive genes associated with SpA in whole blood and skeletal muscle, such as CTNNAL1 (PSM = 3.04 × 10−2, PWB = 9.58 × 10−3). The gene expression profile of SpA identified 20 candidate genes that overlapped in the TWAS data, such as MCM4 (PTWAS = 1.32 × 10−2, PDEG = 2.75 × 10−2) and KIAA1109 (PTWAS = 3.71 × 10−2, PDEG = 4.67 × 10−2). Enrichment analysis of the genes identified by TWAS identified 93 significant GO terms and 33 KEGG pathways, such as mitochondrion organization (GO: 0007005) and axon guidance (hsa04360). Conclusion We identified multiple candidate genes that were genetically related to SpA. Our study may provide novel clues regarding the genetic mechanism, diagnosis, and treatment of SpA.
Related Links	https://josr-online.biomedcentral.com/counter/pdf/10.1186/s13018-023-04029-4.pdf
Ending Page	10
Page Count	10
Starting Page	1
File Format	HTM / HTML
DOI	10.1186/s13018-023-04029-4
Journal	Journal of Orthopaedic Surgery and Research
Issue Number	1
Volume Number	18
Language	English
Publisher	BioMed Central
Publisher Date	2023-09-04
Access Restriction	Open
Subject Keyword	Orthopedics Surgical Orthopedics Spondyloarthritis Transcriptome-wide association study Differentially expressed gene Pathway enrichment analysis Gene ontology
Content Type	Text
Resource Type	Article
Subject	Surgery Orthopedics and Sports Medicine
Journal Impact Factor	2.8/2023
5-Year Journal Impact Factor	3/2023

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