Harmony in transcripts: a systematic literature review of transcriptome-wide association studies

Abstract

Abstract Transcriptome-wide association studies (TWAS) goal is to better understand the etiology of diseases and develop preventative and therapeutic approaches by examining the connections between genetic variants and phenotypes while overcoming the limitations of the genome-wide association study (GWAS). It is a valuable complement to GWAS, reducing the negative effects of multiple tests and enabling a more thorough investigation of gene expression patterns in various tissues. A systematic review is presented in this paper to identify articles that utilize TWAS to understand the genetic factors behind complex diseases. A detailed selection process was carried out using standard PRISMA criteria to select relevant articles for the review. Twenty-five articles passed the inclusion criteria and were selected for additional review. The studies cover a diverse range of disorders, including Tourette’s syndrome, Alzheimer’s disease, rheumatoid arthritis, and major depression. Leveraging gene expression data from different tissues and populations, these investigations successfully identified novel genes and pathways associated with the studied conditions. The collective findings highlight the transformative impact of integrative genomics in advancing our understanding of complex diseases, providing insights into potential therapeutic targets, and laying the foundation for precision medicine approaches.

Keywords

• Transcriptome-wide association studies
• Genomic wide association study
• Genetics
• Expression quantitative trait loci
• Gene expression