IMPACT OF THE RS2032582 VARIANT OF THE MDR1 GENE IN HODGKIN AND NON-HODGKIN LYMPHOMA

Gisele Emy Kondo Nakamura*, Laura Cinquini Franco. and Carlos Eduardo Coral de Oliveira

ABSTRACT

Introduction: The multidrug resistance gene 1 (MDR1), also known as ABCB1, is responsible for producing P-glycoprotein, which is involved in the process of resistance to chemotherapeutic drugs. Variations can occur in this gene, generating a single nucleotide polymorphism (SNP) capable of altering enzyme metabolism and changing the overall survival of a patient. More than 50 types of SNPs in MDR1 have already been described, such as rs2032582 (G2677T/A) on chromosome 7, exon 21, which is the most frequently evaluated polymorphism. Objective: Evaluate the impact of the rs1032582 variant and haplotype structures of the MDR1 gene on the susceptibility and prognosis of lymphomas. Materials and Methods: Samples from patients diagnosed with Hodgkin's Lymphoma (HL) and Non-Hodgkin's Lymphoma (NHL) aged 18 to 80 were genotyped using polymerase chain reaction (PCR). The statistical analysis included the Hardy-Weinberg equilibrium test, case-control association, Kendall's correlation, and haplotype inference. Results: Allele T was associated with 2.78-fold increased odds of developing lymphoma (p<0.001). The TG and GG genotypes were associated with a 7.16- and 4.27-fold increased odds of HL and NHL, respectively. The dominant and additive genetic models further supported the association with lymphoma risk (p<0.05). Haplotypic analysis identified a haplotype block in the region of interest. However, the studied variant was not part of it. Conclusion: The findings of this study demonstrate the importance of the MDR1 rs2032582 gene as a potential genetic marker for the development of lymphomas.

Keywords: Hodgkin Lymphoma; Non-Hodgkin Lymphoma; MDR1 gene; rs2032582; G2677T/A.