The role of polymorphism of , -, and α genes in cutaneous T-cell lymphoma pathogenesis.

INTRODUCTION

As the pathogenesis of cutaneous T-cell lymphomas (CTCL) is not fully understood, inherited gene polymorphisms are considered to play a role in the development of lymphomas.

AIM

To investigate whether certain gene polymorphisms might be involved in the development of CTCL.

MATERIAL AND METHODS

In the case-control study we compared the frequency of nine selected single nucleotide polymorphisms (SNP) of seven genes (α and and α) in 43 CTCL and Polish cases using the amplification refractory mutation system polymerase chain reaction method.

RESULTS

We have found that two genotypes, - of and - of both promoter variants associated with "hypertranscription phenotype", were over-represented in CTCL patients compared to healthy controls, and they increase the risk of malignancy development (OR = 5.82, = 0.001 for IL-2 -330 GG, and OR = 5.67, = 0.0024 for IL-13 -1112 TT). On the other hand, high transcription -308A allele of the α gene and -1082GG of genotype is less frequent in lymphoma patients and has protective effects on the development of CTCL (OR = 0.45, = 0.0466 for -308A of α, and OR = 0.35, = 0.0329 for -1082GG of genes).

CONCLUSIONS

Our results indicate that hypertranscription promoter variants of IL-2 and IL-13 genes could be estimated as the risk factor for development of CTCL, while α and variants have a protective effect.