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

Franzén O, Ermel R, Sukhavasi K, Jain R, Jain A, Betsholtz C, Giannarelli C, Kovacic JC, Ruusalepp A, Skogsberg J, Hao K, Schadt EE, Björkegren JLM

PeerJ 6 (-) e4466 [2018-03-06; online 2018-03-06]

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

NGI Stockholm (Genomics Applications) [Service]

NGI Stockholm (Genomics Production) [Service]

NGI Uppsala (SNP&SEQ Technology Platform) [Service]

National Genomics Infrastructure [Service]

PubMed 29527417

DOI 10.7717/peerj.4466

Crossref 10.7717/peerj.4466

Publications 9.5.0