Analysis of the TAP1 and TAP2 gene polymorphisms in hematological cancers

In this study, it was aimed to analyses the association of TAP1 and TAP2 gene polymorphisms with certain hematological cancers (CLL, CML, MM). TAP1 and TAP2 genes, localized in MHC class II region, encode a heterodimer playing role in MHC class I linked endogen antigen presentation. These proteins are responsible for the transport of antigenic peptides formed by the proteosomal degradation of proteins to the ER lumen. Since these proteins have an important role in antigen presentation, the polymorphisms/mutations in these genes may contribute to the disease development by changing the immune response. In this study, a total of six polymorphic regions (TAP1-333, TAP1-637, TAP2-379, TAP2-565, TAP2-651 and TAP2-665) were genotyped by PCR-RFLP method in patients and control group. Allele and genotype frequencies were determined by direct counting and results were compared by ?2 analysis. As a result, it is thought that all TAP1 gene polymorphisms have no effect but TAP2-651 and TAP2-665 might have an effect on the development of CML. An association was found between TAP1-333, TAP2-379, TAP2-565, TAP2-665 gene polymorphisms and CLL. Furthermore, it can be stated that TAP1-333, TAP2-379 and TAP2-665 gene polymorphisms might have an effect on MM development. Since, the genotype distribution for TAP2-665 and TAP2-379 polymorphisms differed in control and patient groups, it can be thought that these polymorphisms might be associated with CML, CLL and MM.Keywords: TAP1, TAP2, polymorphism, hematological cancer