Global analysis of A-to-I RNA editing reveals association with common disease variants

• Main Authors: Oscar Franzén, Raili Ermel, Katyayani Sukhavasi, Rajeev Jain, Anamika Jain, Christer Betsholtz, Chiara Giannarelli, Jason C. Kovacic, Arno Ruusalepp, Josefin Skogsberg, Ke Hao, Eric E. Schadt, Johan L.M. Björkegren
• Format: Article
• Language: English
• Published: PeerJ Inc. 2018-03-01
• Series: PeerJ
• Subjects: RNA editing; Gene expression; Quantitative trait loci; RNA-seq; Bioinformatics; Biostatistics
• Online Access: https://peerj.com/articles/4466.pdf

RNA editing modifies transcripts and may alter their regulation or function. In humans, the most common modification is adenosine to inosine (A-to-I). We examined the global characteristics of RNA editing in 4,301 human tissue samples. More than 1.6 million A-to-I edits were identified in 62% of all protein-coding transcripts. mRNA recoding was extremely rare; only 11 novel recoding sites were uncovered. Thirty single nucleotide polymorphisms from genome-wide association studies were associated with RNA editing; one that influences type 2 diabetes (rs2028299) was associated with editing in ARPIN. Twenty-five genes, including LRP11 and PLIN5, had editing sites that were associated with plasma lipid levels. Our findings provide new insights into the genetic regulation of RNA editing and establish a rich catalogue for further exploration of this process.