RNA Splicing Events in Circulation Distinguish Individuals With and Without New-onset Type 1 Diabetes
Authors' conclusion
Alternative RNA splicing events in whole blood are significantly enriched in individuals with new-onset T1D and can effectively distinguish these individuals from unaffected controls. Our findings also suggest that RNA splicing profiles offer the potential to provide insights into disease pathogenesis.
Study context
- Population
- Individuals with new-onset T1D and age- and sex-matched nondiabetic controls; whole blood samples from 2 independent cohorts (training and validation of the same size and demographics)2 cohorts
- Participants
- 12 vs 12
- Comparison
- New-onset T1D vs nondiabetic controls
- T1Dn = 12
- Controlsn = 12reference
- Outcome
- Alternative RNA splicing events distinguishing individuals with vs without new-onset T1D
Methodological detailsage- and sex-matched, training and validation cohorts, machine learning, RNA deep sequencing
- Age- and sex-matched
- Training and validation cohorts
- Machine learning
- RNA deep sequencing
Main finding
As reported in the abstract
RNA splicing events in whole blood
- Distinct patterns of RNA splicing differentiated T1D from unaffected controls
- Certain splicing events, particularly retained introns, showed significant association with T1D
- Machine learning using splicing events from the training cohort showed high accuracy in distinguishing T1D from controls in the validation cohort
Observational data: associations, not effects.
Further findings
Gene Ontology pathway enrichment of retained intron category
- Evidence for a systemic viral response in T1D subjects
Original publication
RNA Splicing Events in Circulation Distinguish Individuals With and Without New-onset Type 1 Diabetes. J Clin Endocrinol Metab. Published 10 September 2024. doi:10.
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