Correlation of Genetic Variants and the Incidence, Prevalence and Mortality Rates of Acute Lymphoblastic Leukemia

Abstract

Acute lymphoblastic leukemia (ALL) is the most common cancer during childhood, representing about 30–35% of cases. Its etiology is complex and not fully understood. ALL is influenced by genetic variants, and their frequencies (Fq) vary in different ethnic groups, which consequently could influence the epidemiology of this cancer worldwide. The aim of this study was to investigate the correlation between the genetic variants and their impacts on incidence (IC), mortality (MT), and prevalence (PV) rates of ALL in different world populations. Methods: Sixty variants were selected from the literature with Genome Wide Association studies (GWAS). Information regarding allele Fq was selected from the 1000 Genomes platform. Epidemiological data were taken from the Global Burden of disease visualisations (GBD) Compare website. Statistical analyses were calculated in RStudio v.3.5.1 software. Results: Four variants demonstrated significant results in correlations with epidemiological data for ALL. The PAX5 gene variant (rs2297105) had an indirect relationship with PV and IC of ALL, showing that an increased Fq of this variant is related to low rates of both. An increased Fq of rs915172 in EPB4IL2 gene was also correlated with a lower IC of ALL. The rs1048943 of the CYP1A1 gene and the rs3088440 polymorphism of the CDKN2A gene were shown to have a direct proportional relationship with MT rate, showing that an increased Fq of these variants correlates with a worse prognosis worldwide. Conclusion: Our study points out four important variants for understanding the IC, PV, and MT rates for ALL. The ascertainment of these data may help to choose molecular markers to investigate the susceptibility and prognosis of ALL.

Association of CDKN2A/B mutations, PD-1, and PD-L1 with the risk of acute lymphoblastic leukemia in children

“…As previously demonstrated, the C allele in the rs3088440 variant facilitates the binding of c-Myb to the CDKN2A transcriptional regulatory region, which may lead to the repression of the CDKN2A gene and impair its normal function in cell cycle regulation (Stenman et al 2010 ). Moreover, rs3088440 was positively correlated with ALL mortality, and the higher the frequency of this variant allele, the higher the incidence and mortality of ALL (Fernandes et al 2022 ). Therefore, CDKN2A rs3088440 may be associated with the development of childhood ALL.…”

“…Another factor associated with the onset of ALL is the ethnic characteristics of different populations (Hsu et al 2016 ). Importantly, several studies involving the genomes of large numbers of patients have suggested that genetic variants may be risk factors for ALL in populations with different patterns of ethnic composition (Fernandes et al 2022 ; Yamada et al 2017 ).…”

MiRNAs in Hematopoiesis and Acute Lymphoblastic Leukemia

“…Acute lymphoblastic leukemia (ALL) is the most common cancer type in children under 15 years old [ 1 ]. This hematologic malignancy is characterized by a clonal expansion of immature lymphoid progenitor cells [ 2 ].…”

Factors Affecting the Adoption of Artificial Intelligence-Enabled Virtual Assistants for Leukemia Self-Management

“…Leukemia, a complex and life-threatening blood cancer, poses significant challenges to patients and healthcare systems worldwide [1,2]. The management of leukemia necessitates continuous monitoring, timely interventions, and informed decision-making to improve patient outcomes [3,4].…”