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

PeerJ

article

Oscar Franzén¹  Raili Ermel²  Katyayani Sukhavasi³  Rajeev Jain³  Anamika Jain³  Christer Betsholtz¹  Chiara Giannarelli⁵  Jason C. Kovacic⁵  Arno Ruusalepp²  Josefin Skogsberg⁸  Ke Hao⁶  Eric E. Schadt⁶  Johan L.M. Björkegren¹ 

[1] Integrated Cardio Metabolic Centre, Karolinska Institutet;Department of Cardiac Surgery, Tartu University Hospital;Department of Pathophysiology, Institute of Biomedicine and Translational Medicine, University of Tartu;Department of Immunology, Genetics and Pathology, Uppsala Universitet;Cardiovascular Research Center, Icahn School of Medicine at Mount Sinai;Institute of Genomics and Multiscale Biology, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai;Clinical Gene Networks AB;Department of Medical Biochemistry and Biophysics, Karolinska Institutet

关键词: RNA editing;    Gene expression;    Quantitative trait loci;    RNA-seq;    Bioinformatics;    Biostatistics;   

DOI  :  10.7717/peerj.4466

学科分类：社会科学、人文和艺术（综合）

来源: Inra

【 摘 要 】

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.

【 授权许可】

CC BY