A comprehensive consolidation of data on the connection between CDKN2A polymorphisms and the susceptibility to childhood acute lymphoblastic leukemia.

Background: Acute lymphoblastic leukemia is the predominant neoplastic ailment in childhood. Prior research has already established noteworthy connections between CDKN2A polymorphisms and susceptibility to this childhood leukemia, however, substantial associations are still awaiting validation. This investigation was undertaken to examine the correlation between CDKN2A polymorphisms and the risk of acute lymphoblastic leukemia in children.

Methods: Acquisition of information encompassed the exploration of diverse databases including PubMed, Scopus, EMBASE, and China National Knowledge Infrastructure (CNKI) until January 10, 2024. An estimation of associations was achieved utilizing odds ratios with 95% confidence intervals.

Results: A total of 22 case-control studies encompassing 10,203 cases of acute lymphoblastic leukemia and 36,424 healthy controls were included. Within this pool of studies, 14 focused on rs3731217, comprising 5396 cases and 15,787 controls, whereas eight studies investigated rs3731249, comprising 4807 cases and 20,637 controls. The aggregated data showed that the rs3731217 variant offers protection against acute lymphoblastic leukemia. Nevertheless, when subgroups are analyzed according to ethnicity, it becomes clear that the rs3731217 polymorphism significantly influences susceptibility, particularly among individuals of Caucasian and African descent with no such association being observed in children of Asian origin. Nevertheless, the rs3731249 polymorphism displayed a noteworthy correlation with vulnerability to pediatric acute lymphoblastic leukemia.

Conclusion: The aggregated data revealed that the rs3731217 variation offers protection against the development of pediatric acute lymphoblastic leukemia and the rs3731249 polymorphism is significantly correlated with susceptibility.