Dysregulation of alternative splicing is associated with the pathogenesis of ulcerative colitis

BioMedical Engineering OnLine

Yue Tan¹  Daowei Li² 

[1] Department of Gastroenterology, Shengjing Hospital of China Medical University, Tiexi District, 39 Huaxiang Road, 110022, Shenyang, China;Department of Radiology, The People’s Hospital of China Medical University & The People’s Hospital of Liaoning Province, No. 33, Wenyi Road, Shenhe District, 110016, Shenyang, China;

关键词: Ulcerative colitis;    Alternative splicing;    Posttranscriptional regulation;    RNA-Seq;   

DOI  :  10.1186/s12938-021-00959-4

来源: Springer

【 摘 要 】

BackgroundAlthough numerous risk loci for ulcerative colitis (UC) have been identified in the human genome, the pathogenesis of UC remains unclear. Recently, multiple transcriptomic analyses have shown that aberrant gene expression in the colon tissues of UC patients is associated with disease progression. A pioneering study also demonstrated that altered post-transcriptional regulation is involved in the progression of UC. Here, we provide a genome-wide analysis of alternative splicing (AS) signatures in UC patients. We analyzed three datasets containing 74 tissue samples from UC patients and identified over 2000 significant AS events.ResultsSkipped exon and alternative first exon were the two most significantly altered AS events in UC patients. The immune response-related pathways were remarkably enriched in the UC-related AS events. Genes with significant AS events were more likely to be dysregulated at the expression level.ConclusionsWe present a genomic landscape of AS events in UC patients based on a combined analysis of two cohorts. Our results indicate that dysregulation of AS may have a pivotal role in determining the pathogenesis of UC. In addition, our study uncovers genes with potential therapeutic implications for UC treatment.

【 授权许可】

CC BY