Transforming growth factor-b1 gene polymorphism in mycosis fungoides

Abstract

Background. Dysregulation in transforming growth factor (TGF)-β1 signalling pathways has been linked to cancer. Aim. To study the association between single nucleotide polymorphisms (SNPs) of the TGF-β1 gene and mycosis fungoides (MF). Methods. Using restriction fragment length polymorphism analysis, SNPs in the TGF-β1 gene were studied in 55 patients with MF of different stages and in 100 apparently healthy controls. Results. A significant difference was found between patients and controls in distribution of the different TGF-β1 genotypes, with mutant forms (T/C, T/T) encountered significantly more often in patients with MF (P < 0.001). The heterozygous genotype (T/C) was significantly associated with patch stage MF, whereas the homozygous genotype (T/T) was significantly associated with tumour stage (stage IIb) MF (P = 0.001), although this study included only a small number of these patients. Conclusions. Mutant TGF-β1 genotypes are significantly associated with MF in Egyptian patients, with the homozygous genotype (T/T) having a stronger association with tumour stage (stage IIb).