| خلاصه مقاله | Associations Between ARID5B Polymorphisms and Acute Lymphoblastic
Leukemia: Insights Into Genetic Susceptibility and Risk Prediction
Acute lymphoblastic leukemia (ALL) is the most prevalent pediatric malignancy, accounting for approximately 25% of cancer diagnoses in children worldwide. Despite advances in treatment that have significantly improved survival rates, the incidence, clinical presentation, and outcomes of ALL vary across populations, reflecting a complex interplay of genetic, environmental, and socioeconomic factors.
Among the genetic contributors, single nucleotide polymorphisms (SNPs) in the AT-rich interactive domain 5B (ARID5B) gene have been consistently implicated in modulating susceptibility to ALL. ARID5B, a transcription factor involved in chromatin remodeling and gene regulation, plays a critical role in lymphoid development, making it a plausible candidate for influencing leukemogenesis.
This review synthesizes current evidence on ARID5B polymorphisms and their associations with ALL risk. By consolidating findings from diverse studies, we aim to help our understanding of the genetic mechanisms underlying ALL and their implications for risk prediction and personalized treatment strategies.
This narrative review was conducted to provide a comprehensive overview of ARID5B polymorphisms and their association with acute lymphoblastic leukemia (ALL) susceptibility. Relevant studies were identified through extensive searches in PubMed, Scopus, and Web of Science, focusing on peer-reviewed articles and genome-wide association studies (GWAS) published up to December 2023. Search terms included combinations of ARID5B, polymorphisms, single nucleotide polymorphisms, acute lymphoblastic leukemia, and ALL susceptibility. Studies were selected based on their relevance to ARID5B genetic variants and their implications for ALL risk across different populations
The relationship between ARID5B polymorphisms and ALL susceptibility varies across populations. In China, the rs7089424 (GG and GT genotypes) and rs10994982 (AA genotype) polymorphisms are linked to an increased risk of B-cell ALL (B-ALL), particularly in hyperdiploid subtypes. In Egypt, the CC genotype in rs4948488 and the AG and AA genotypes in rs2893881 show significant associations with ALL; the CC and AA genotypes are linked to T-cell ALL (T-ALL), while the AG genotype correlates with B-ALL. Among Mexican children, the rs10821936 and rs7089424 polymorphisms are strongly associated with a higher risk of ALL. In the United States, SNPs such as rs10821936 and rs10994982 confer an increased risk of B-ALL, with racial disparities in allele frequencies influencing disease outcomes. In European cohorts, rs10821936 and rs7089424 are significant risk factors for childhood B-ALL, with risk alleles nearly doubling susceptibility. These findings underscore the consistent yet population-specific roles of ARID5B SNPs, including rs7089424, rs10994982, rs4948488, rs2893881, and rs10821936, in modulating ALL risk.
ARID5B polymorphisms are key determinants of ALL susceptibility, particularly rs7089424, rs10994982, rs4948488, rs2893881, and rs10821936. These findings highlight the importance of population-specific genetic studies in understanding disease risk and inform the development of strategies for early diagnosis and personalized treatment to improve patient outcomes globally. |