Abstract
BackgroundAssociations between IKZF1 gene variants and Acute Lymphoblastic Leukemia (ALL) was recently reported. We examined whether the common IKZF1 polymorphisms rs4132601 T/G and rs111978267 A/G are associated with ALL among a Tunisian pediatric cohort.MethodsThis case-control study involved 170 patients with ALL and 150 control subjects. SNP genotyping was performed by TaqMan® SNP Genotyping Assay.ResultsThe minor allele G of IKZF1 gene polymorphism rs4132601 T/G was significantly higher in ALL cases than in control subjects (P = 0.029), with 1.54-fold increased risk of ALL. The association of rs4132601 with ALL was seen under co-dominant (P = 0.009), recessive (P = 0.006), and additive (P = 0.027) genetic models, of which the co-dominant (P = 0.027) and recessive (P = 0.027) association remained significant after adjusting for covariates, and False Discovery Rate correction. In contrast, no association was noted for rs111978267 variant. Two-locus (rs4132601-rs11978267) IKZF1 haplotype analysis demonstrated association of GA (P = 0.053), with increased ALL risk [OR (95% CI) = 1.58 (1.00–2.51)], which remained significant after controlling for key covariates [aP = 0.046; aOR (95% CI) = 1.61 (1.01–2.57)].ConclusionWe demonstrated the association of IKZF1 polymorphism rs4132601 T/G with increased risk of ALL among Tunisian pediatric cohort, with altered phenotypic changes among ALL patients.
Highlights
Associations between IKAROS family zinc finger 1 (IKZF1) gene variants and Acute Lymphoblastic Leukemia (ALL) was recently reported
Genotypes of rs4132601 (P = 0.88), and rs11978267 (P = 0.5) IKZF1 gene variants were in Hardy–Weinberg equilibrium (HWE) among control population
Minor (G) allele frequencies (MAF) of rs4132601 was higher in patients and exhibited a significant association with ALL [P = 0.029; odds ratios (OR) = 1.54 (1.04–2.2)], while there was a lack association for rs111978267 A/G with ALL (P = 0.086)
Summary
Associations between IKZF1 gene variants and Acute Lymphoblastic Leukemia (ALL) was recently reported. Acute lymphoblastic leukemia (ALL), an aggressive lymphoid cancer, affecting red, white blood cells and platelets. It is reported as the most prevalent hematopoietic malignancy in children worldwide [1, 2]. ALL is Recent evidence revealed that acquired somatic mutations could contribute to ALL [10] These mutations increase the proliferation and survival of progenitor cells [10] and impair further cellular differentiation [10]. These alterations contribute to the diagnosis and prognosis [10], they are insufficient to understand the physiopathology ALL processes. The introduction of novel diagnostic tools, such as high-resolution karyotyping, Mahjoub et al BMC Medical Genetics (2019) 20:159
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