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

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

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


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 RNAediting; 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.

Original languageEnglish
Article numbere4466
Issue number3
StatePublished - 2018


  • Bioinformatics
  • Biostatistics
  • Gene expression
  • Quantitative trait loci
  • RNA editing
  • RNA-seq


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