Precision medicine in systemic lupus erythematosus.
Serena FasanoAlessandra MiloneGiovanni Francesco NicolettiDavid Alan IsenbergFrancesco CicciaPublished in: Nature reviews. Rheumatology (2023)
Systemic lupus erythematosus (SLE) is an autoimmune disease that has diverse clinical manifestations, ranging from restricted cutaneous involvement to life-threatening systemic organ involvement. The heterogeneity of pathomechanisms that lead to SLE contributes to between-patient variation in clinical phenotype and treatment response. Ongoing efforts to dissect cellular and molecular heterogeneity in SLE could facilitate the future development of stratified treatment recommendations and precision medicine, which is a considerable challenge for SLE. In particular, some genes involved in the clinical heterogeneity of SLE and some phenotype-related loci (STAT4, IRF5, PDGF genes, HAS2, ITGAM and SLC5A11) have an association with clinical features of the disease. An important part is also played by epigenetic varation (in DNA methylation, histone modifications and microRNAs) that influences gene expression and affects cell function without modifying the genome sequence. Immune profiling can help to identify an individual's specific response to a therapy and can potentially predict outcomes, using techniques such as flow cytometry, mass cytometry, transcriptomics, microarray analysis and single-cell RNA sequencing. Furthermore, the identification of novel serum and urinary biomarkers would enable the stratification of patients according to predictions of long-term outcomes and assessments of potential response to therapy.
Keyphrases
- single cell
- systemic lupus erythematosus
- dna methylation
- genome wide
- gene expression
- rna seq
- disease activity
- flow cytometry
- high throughput
- end stage renal disease
- chronic kidney disease
- ejection fraction
- bioinformatics analysis
- copy number
- newly diagnosed
- multiple sclerosis
- prognostic factors
- rheumatoid arthritis
- type diabetes
- quality improvement
- patient reported outcomes
- clinical practice
- metabolic syndrome
- cell therapy
- current status
- vascular smooth muscle cells
- climate change
- replacement therapy
- stem cells