La medicina di precisione entra nel trattamento della colite ulcerosa e del morbo di Crohn. Condividiamo gli incoraggianti risultati dello studio che ci ha visti coinvolti come Laboratorio di Genetica nel gruppo di ricerca coordinato dall’Università di Messina.

“I polimorfismi genetici dei geni TNFA, TNFRSF1A e TNFRSF1B predicono l’efficacia della terapia anti-TNF-α nei pazienti con malattia infiammatoria intestinale (IBD)”

Di seguito un estratto del lavoro realizzato, mentre la pubblicazione scientifica completa può essere consultata al seguente link:  https://pubmed.ncbi.nlm.nih.gov/40149645/

La risposta ai farmaci biologici anti-TNF-α (come infliximab e adalimumab), fondamentali nel trattamento delle malattie infiammatorie croniche intestinali (IBD), varia significativamente da paziente a paziente. Questa variabilità clinica ha spinto un gruppo di ricercatori dell’Università di Messina e di L.C. Laboratori Campisi ad approfondire il ruolo del background genetico nella predizione dell’efficacia terapeutica.

Lo studio ha analizzato otto polimorfismi genetici (SNPs) in 83 pazienti europei affetti da IBD trattati con infliximab o adalimumab, valutando la remissione clinica senza uso di corticosteroidi (SFR) e la continuità della terapia a 12 mesi.

Risultati chiave:

Alcuni genotipi specifici, in particolare quelli dei geni TNFA (rs1800629 e rs361525) e TNFRSF1A (rs767455), influenzano la probabilità di successo clinico.

In particolare, il genotipo A/A del SNP rs1061624 (TNFRSF1B) è risultato associato a una maggiore probabilità di remissione senza steroidi.

Al contrario, il genotipo mutato in rs1800629 hanno mostrato un rischio significativamente più alto di insuccesso terapeutico.

Conclusione:
integrare la valutazione genetica nella pratica clinica potrebbe permettere di:

• Personalizzare le scelte terapeutiche,
• Evitare trattamenti inefficaci,
• Ottimizzare risorse sanitarie e tempi di risposta clinica.

 Verso una medicina sempre più “sartoriale”, lo studio rafforza l’importanza di una strategia “genotype-guided” per i pazienti affetti da IBD, aprendo nuove strade alla medicina personalizzata.

Genetic Polymorphisms on TNFA, TNFRSF1A, and TNFRSF1B Genes Predict the Effectiveness of Anti-TNF-α Treatment in Inflammatory Bowel Disease Patients

2025 Mar 8

Michelangelo Rottura 1, Igor Pirrotta 1, Domenico Antonio Giorgi 1, Natasha Irrera 1, Vincenzo Arcoraci 1, Federica Mannino 2, Rosario Campisi 3, Chiara Bivacqua 1 4, Laura Patanè 1 4, Giuseppe Costantino 5, Socrate Pallio 1, Walter Fries 1, Anna Viola 1, Giovanni Pallio 3

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