Adrenal disease

Whole blood transcriptomic signature of Cushing's syndrome

Eur J EndocrinolPublished Diagnostic accuracy study

Authors' conclusion

Whole blood transcriptome reflects the circulating levels of glucocorticoids. FKBP5 expression could be a nonhormonal marker of Cushing's syndrome.

Study context

Population
Patients with overt CS, mild CS, eucortisolism and adrenal insufficiency
Participants
57 samples
Comparison
Whole blood transcriptomic signature for identifying Cushing's syndrome
Outcome
Prediction of CS in the validation cohort
Methodological detailstraining and validation cohorts, whole blood RNA sequencing, ridge regression predictor
  • Training and validation cohorts
  • Whole blood RNA sequencing
  • Ridge regression predictor

Performance

As reported in the abstract

Test or modelAccuracy
1500-gene predictor.82
FKBP5.76

Accuracy

1500-gene predictor.82
FKBP5.76
1500-gene predictor remained significant in a multivariate model including neutrophil proportion
P = 0.002

Further findings

Transcriptomic profile discriminated samples with overt CS
Genes mostly associated with overt CS were enriched in immunity pathways, particularly neutrophil activation

Original publication

Whole blood transcriptomic signature of Cushing's syndrome. Eur J Endocrinol. Published 6 July 2024. doi:10.1093/ejendo/lvae083

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