Antiapoptotic Gene Genotype and Allele Variations and the Risk of Lymphoma

SIMPLE SUMMARY: The results of prior studies on the genotypes and allele variations of the antiapoptotic gene and the risk of lymphoma are unclear. To address this gap, this case–control study included 205 Saudi patients, 100 of whom had lymphoma, and 105 who were healthy controls. Antiapoptotic genes, including B-cell lymphoma-2 (BCL2-938 C > A), MCL1 (rs9803935 T > G), and survivin (BIRC5-rs17882312 G > C and BIRC5-rs9904341 G > C) were identified using the tetra amplification refractory mutation polymerase chain reaction (PCR). BIRC5-C, MCL1-G, and BIRC5-G alleles were identified using allele-specific PCR. In addition to BCL-2-A mutations, lymphoma patients are more likely to have antiapoptotic gene genotypes and allele variations than healthy volunteers. The results could help classify and identify those at risk of lymphoma in the future. ABSTRACT: Background: The findings of earlier investigations of antiapoptotic gene genotypes and allele variants on lymphoma risk are ambiguous. This study aimed to examine the relationship between the mutation in the antiapoptotic genes and lymphoma risk among Saudi patients. Methods: This case–control study included 205 patients, 100 of whom had lymphoma (cases) and 105 who were healthy volunteers (controls). We used tetra amplification refractory mutation polymerase chain reaction (PCR) to identify antiapoptotic genes such as B-cell lymphoma-2 (BCL2-938 C > A), MCL1-rs9803935 T > G, and survivin (BIRC5-rs17882312 G > C and BIRC5-rs9904341 G > C). Allelic-specific PCR was used to identify alleles such as BIRC5-C, MCL1-G, and BIRC5-G. Results: The dominant inheritance model among cases showed that mutations in all four antiapoptotic genes were more likely to be associated with the risk of lymphoma by the odds of 2.0-, 1.98-, 3.90-, and 3.29-fold, respectively, compared to controls. Apart from the BCL-2-A allele, all three specified alleles were more likely to be associated with lymphoma by the odds of 2.04-, 1.65-, and 2.11-fold, respectively. Conclusion: Unlike healthy individuals, lymphoma patients are more likely to have antiapoptotic gene genotypes and allele variants, apart from BCL-2-A alterations. In the future, these findings could be used to classify and identify patients at risk of lymphoma.