IMPLICATIONS OF GENETIC VARIANTS RS2515641 AND RS20700672 OF CYP2E1 GENE AND RS4680 OF THE COMT GENE IN PATHOGENESIS OF LYMPHOMAS

Júlia de Dio Carvalho*, Thaís Mitie Ogasawara*, Laila Zolin Tominaga, Mirela De Lima Dias, Carlos Eduardo Coral de Oliveira

ABSTRACT

Introduction: Lymphoma is a neoplasm that affects the lymphoid tissue, classified into Hodgkin's lymphoma and non-Hodgkin's lymphoma. Its pathophysiology is still unclear, indicating the involvement of genetic mechanisms. Therefore, changes in the polymorphism of the COMT gene and the CYP2E1 enzyme may be related to the pathogenesis of lymphoma. Objectives: Investigate the allele and genotype frequency of the polymorphism rs4680 of the COMT gene and rs2515641 and rs2070672 of the CYP2E1 gene in individuals with lymphomas and controls. Methodology: Peripheral blood samples from 165 volunteers were submitted to analysis of polymorphisms by PCR. Results: No association was observed between the presence of the A allele COMT gene and susceptibility to lymphomas, whereas the recessive genotype (OR= 2.91; 95%CI= 1.06-7.41; p=0.05) and the recessive genetic model (OR= 2.81; 95%CI= 1.09-7.10; p=0.04) were associated with a higher risk of developing lymphoma in this population. The CYP2E1 rs251561 polymorphism is not associated with the development of lymphomas. However, the presence of the allelic variant (OR= 0.38; CI95%= 0.20-0.69; p= 0.002) as well as the recessive genotypes (OR= 0.19; CI95%= 0.06-0, 63; p= 0.008) and dominant (OR= 0.38; 95%CI= 0.17-0.87; p= 0.03), recessive (OR= 0.25; 95%CI= 0.08) genetic models -0.81; p= 0.02) and additive (OR= 0.32; 95%CI= 0.15-0.67; p= 0.004) of CYP2E1 variant rs2070672 were significantly related to protection against lymphoma. Conclusion: The COMT rs4680 genetic polymorphism appears to influence susceptibility to Hodgkin's and non-Hodgkin's disease. The CYP2E1 rs2070672 genotypes, on the other hand, demonstrate its function as a molecular marker for lymphomas.

Keywords: Lymphomas, Polymorphism, CYP2E1, COMT.