Association of TAP1 and TAP2 Gene Polymorphisms with Hematological Malignancies

Abstract

Transporter associated with antigen presenting (TAP) 1 and TAP2 genes are localized in the major histocompatability complex (MHC) class II region and form a heterodimer playing a key role in endogenous pathways for antigen presentation. Defects of these genes have been reported to be common in different types of cancer. Polymorphisms identified in these loci have also been investigated and reported to be associated with several autoimmune disorders, viral infections and neoplasms. In the present study, for the first time, the allele and genotype frequencies of TAP1-333, TAP2-565, TAP2-651 and TAP2-665 were determined in patients with hematological malignancies (HM) using a PCR-RFLP method and compared with the frequencies in the control group. Our results suggested an association of TAP1-333 polymorphism with multiple myeloma-MM and TAP2-565 polymorphism with chronic lymphoid leukemia-CLL. In addition, it could be concluded that the TAP2-665 GG genotype might be a risk factor for all types of hematological malignancies included in this study.

Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility

“…Here, we used the power of the UK Biobank to perform a GWAS of genetic susceptibility to BCC as the platform, upon which we built an integrated approach of SMR analysis focused on both eQTL and mQTL, Table 2 Overview of blood and skin SMR analyses detailing tissue-specific and common BCC susceptibility genes Reduced expression of HLA is one key mechanism by which tumours escape host immune surveillance [33], and our SMR analyses identified decreased expression of HLA-DQA2 is linked to increased BCC risk. TAP2, another SMR gene, localises to the MHC class II region and plays a pivotal role in immune surveillance, with polymorphisms linked to the susceptibility of various autoimmune disorders [34][35][36] and various neoplasms [37][38][39].…”

Investigation of Gene Expressions of Myeloma Cells in the Bone Marrow of Multiple Myeloma Patients by Transcriptome Analysis

“…It has been documented in cell lines from primary cells and various tumors, particularly MM, that TAP1 and/or TAP2 mRNA and protein levels are not detectable in small quantities. Defects in TAP genes play a role in the development of hematological malignancies (21). Our results included a mutated TAP gene (data not shown).…”

Allogeneic Hemopietic Stem Cell Transplants for the Treatment of B Cell Acute Lymphocytic Leukemia

“…In China, B-ALL accounts for 70.5% of ALL9 (Li X et al, 2012) Treatment strategy for patients who responded to chemotherapy, is preferentially to conduct sibling allogeneic transplantation, followed by HLA unrelated umbilical cord blood transplantation (UCBT), autologous transplantation, half consistency, and consolidated maintain chemotherapy (Pui et al, 2006;Abdel-Aziz et al, 2013;Dunna et al, 2013;Ozbas-Gerceker et al, 2013;Jiang et al, 2013;Soheila et al, 2013;Tharnprisan et al, 2013;Dunna et al, 2014;Iqbal et al, 2014;Mehde et al, 2014;Niu et al, 2014;Shaikh et al, 2014;Wang et al, 2014). French study suggests that allogeneic stem cell transplantation could significantly improve the overall survival (OS) in patients with high-risk ALL, prolong disease-free survival (DFS), and reduce the mortality rate (Terwey et al, 2009).…”