Oral Mucositis in Oncopediatric Patients: MTX and MMP-1, MMP-8, MMP-13 Gene Polymorphisms

This study investigates the association between single-nucleotide polymorphisms (SNPs) in the MMP-1, MMP-8, and MMP-13 genes and the risk of oral mucositis development in paediatric patients with leukaemia and lymphoma who are undergoing methotrexate (MTX) treatment. MTX is associated with inflammatory effects and oxidative stress, which activate MMPs, enzymes responsible for degrading the extracellular matrix. This study aimed to investigate the association between MMPs polymorphisms (rs1799750, rs3025058, and rs2252070) with OM in the oncopediatric patients treated with MTX.

Genomic DNA from 100 patients was extracted from saliva and genotypes were obtained by PCR-RFLP. Genotype data were measured using the Chi-square test. Haplotype estimation, Hardy-Weinberg equilibrium, linkage disequilibrium, multiple logistic regression analyses was conducted using SNPStats and with R. MCA performed with the packages FactoMineR and factoextra.

The results show that the MMP-1 g.-1607 G>GG, MMP-8 g.-799 C>T, and MMP-13 g.-77 A>G polymorphisms are associated with the occurrence of oral mucositis. The MMP-8 g.-799 C>T polymorphism was also associated with greater disease severity.

The study highlights the importance of these MMPs polymorphisms as potential markers for predicting susceptibility to oral mucositis, suggesting that these data could help tailor treatments to minimise the occurrence and severity of mucositis.