CD38 gene polymorphisms and genetic susceptibility to chronic lymphocytic leukemia

Introduction: CLL is one of the most common leukemias, which is categorized by the accumulation of mature CD5+ B-lymphocytes in the peripheral blood, bone marrow, and secondary lymphoid organs. In this study, the status of rs6449182 polymorphism of the CD38 gene and its association with clinical and laboratory parameters of CLL patients was evaluated. Methods: Genomic DNA extraction was performed using the salting out method. The CD38 gene polymorphism (rs6449182) was studied in 70 patients with CLL and 70 healthy individuals using the PCR-RFLP method. Results: The results of this study showed that the control group had 86% wildtype rs6449182 (CC), 12% heterozygous (CG), and 2% homozygous (GG) genotypes. In the case group, 62% had wild-type genotype (CC) 26% were heterozygous (CG), and 12% were homozygous (GG). Statistical analysis showed that the heterozygous genotype for the CD38 gene was significantly associated with CLL. It was also understood that this polymorphism had a significant relationship with hemoglobin, age, and organomegaly of patients. Conclusions: The CD38 gene polymorphism of rs6449182 SNP G allele had the highest frequency. Moreover, based on the results, this polymorphism has a significant relationship with organomegaly, which indicates the importance of these markers in the pathogenesis and prognosis of the disease.