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

Franzen, Oscar (author): Karolinska Institutet,Karolinska Inst, Integrated Cardio Metab Ctr, Huddinge, Sweden.

Sukhavasi, Katyayani (author): Univ Tartu, Inst Biomed & Translat Med, Dept Pathophysiol, Tartu, Estonia.

Jain, Rajeev (author): Univ Tartu, Inst Biomed & Translat Med, Dept Pathophysiol, Tartu, Estonia.

Jain, Anamika (author): Univ Tartu, Inst Biomed & Translat Med, Dept Pathophysiol, Tartu, Estonia.

Betsholtz, Christer (author): Karolinska Institutet,Uppsala universitet,Vaskulärbiologi,Karolinska Inst, Integrated Cardio Metab Ctr, Huddinge, Sweden

Giannarelli, Chiara (author): Icahn Sch Med Mt Sinai, Cardiovasc Res Ctr, New York, NY 10029 USA.;Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, Dept Genet & Genom Sci, New York, NY 10029 USA.

Kovacic, Jason C. (author): Icahn Sch Med Mt Sinai, Cardiovasc Res Ctr, New York, NY 10029 USA.

Ruusalepp, Arno (author): Tartu Univ Hosp, Dept Cardiac Surg, Tartu, Estonia.;Univ Tartu, Inst Biomed & Translat Med, Dept Pathophysiol, Tartu, Estonia.;Clin Gene Networks AB, Stockholm, Sweden.

Skogsberg, Josefin (author): Karolinska Institutet,Karolinska Inst, Dept Med Biochem & Biophys, Solna, Sweden.

Hao, Ke (author): Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, Dept Genet & Genom Sci, New York, NY 10029 USA.

Schadt, Eric E. (author): Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, Dept Genet & Genom Sci, New York, NY 10029 USA.;Clin Gene Networks AB, Stockholm, Sweden.

Bjoerkegren, Johan L. M. (author): Karolinska Institutet,Karolinska Inst, Integrated Cardio Metab Ctr, Huddinge, Sweden.;Univ Tartu, Inst Biomed & Translat Med, Dept Pathophysiol, Tartu, Estonia.;Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, Dept Genet & Genom Sci, New York, NY 10029 USA.;Clin Gene Networks AB, Stockholm, Sweden.

Karolinska Institutet Karolinska Inst, Integrated Cardio Metab Ctr, Huddinge, Sweden (creator_code:org_t)

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Abstract Subject headings

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.

By the author/editor: Franzen, Oscar; Ermel, Raili; Sukhavasi, Katya ...; Jain, Rajeev; Jain, Anamika; Betsholtz, Chris ...; show more...; Giannarelli, Chi ...; Kovacic, Jason C ...; Ruusalepp, Arno; Skogsberg, Josef ...; Hao, Ke; Schadt, Eric E.; Bjoerkegren, Joh ...; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Cell and Molecul ...

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