Transforming growth factor-β1 functional polymorphisms in myeloablative sibling hematopoietic stem cell...

Area of Science:

• Immunogenetics
• Hematology
• Oncology

Background:

• Hematopoietic stem cell transplantation (HSCT) is crucial for treating hematological malignancies.
• Genetic factors significantly influence HSCT outcomes.
• Transforming growth factor-beta 1 (TGF-β1) gene polymorphisms are implicated in transplant success.

Purpose of the Study:

• To investigate the association between a specific TGF-β1 single-nucleotide polymorphism (SNP) at +29C>T and HSCT outcomes.
• To determine if this SNP influences graft-versus-host disease (GvHD), relapse rates, and survival in sibling donor HSCT.

Main Methods:

• Genotyping of 245 patient/donor pairs for the TGF-β1 +29C>T SNP.
• Analysis of outcomes in a myeloablative cohort, including severe chronic GvHD, non-relapse mortality (NRM), relapse rates, and overall survival (OS).

Main Results:

• Patients with +29CC donors had increased severe chronic GvHD (32% vs 16%).
• +29CC patients exhibited higher non-relapse mortality (NRM) (28-32% vs 7-10%).
• Recipients of +29TT donors showed higher relapse rates (37-51%) and decreased overall survival (OS) (69-50%).

Conclusions:

• The TGF-β1 +29C>T SNP is associated with significant differences in HSCT outcomes.
• +29CC donors correlate with higher GvHD and NRM.
• +29TT donors may increase relapse risk and reduce OS, supporting personalized transplant approaches.