Since two genome-wide association studies identified the same susceptible region at ARID5B and IKZF1 for acute leukemia in Caucasians in the same time, several research groups have confirmed the similar results in different ethnicities and of different acute leukemia subtypes (ALL and AML). However, the causal variants of these two genes were not identified. In this study, we systematically screened 6 potentially functional SNPs in ARID5B and IKZF1 genes, and conducted a case-control study including 660 AML cases and 1034 cancer-free controls to investigate the associations between these SNPs and AML risk. We found that the variant alleles of rs4509706 and rs11761922 could significantly increase the risk of AML (rs4509706: OR=1.35, 95%CI=1.12-1.62 in additive model; rs11761922: OR=1.29, 95%CI=1.02-1.62 in recessive model). Luciferase reporter assay showed that both rs11761922-G and rs4509706-C significantly increased the luciferase levels as compared with rs11761922-C and rs4509706-T in K562 cells (P<0.05 for rs11761922 and P<0.001 for rs4509706). Our results indicated that rs4509706 and rs11761922 may play important roles in AML development in Chinese population.
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Genes of Predisposition to Childhood Beta-Cell Acute Lymphoblastic Leukemia in the Kazakh Population.
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Republican Medical Genetic Consultation, Scientific Center of Obstetrics, Gynecology and Perinatology, 050020, 125 Dostyk Ave., Almaty, Kazakhstan.
Background: Today, acute lymphoblastic leukemia is one of the most common malignant diseases of the hematopoietic system. The genetic predisposition to ALL is not fully explored in various ethnic populations.
Objective: The study aimed to conduct a comparative analysis of the population frequencies of alleles and genotypes of polymorphic gene variants: immune regulation GATA3 (rs3824662); transcription and differentiation of B cells: ARID5B (rs7089424, rs10740055), IKZF1 (rs4132601); differentiation of hematopoietic cells: PIP4K2A (rs7088318); apoptosis: CEBPE (rs2239633), tumor suppressors: CDKN2A (rs3731249), TP53 (rs1042522); carcinogen metabolism: CBR3 (rs1056892), CYP1A1 (rs104894, rs4646903), according to genome-wide association studies analyses associated with the risk of developing pediatric beta-cell acute lymphoblastic leukemia (B-cell ALL), in an ethnically homogeneous population of Kazakhs with studied populations.
, , , , and germline polymorphisms and predisposition to childhood acute lymphoblastic leukemia.
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Department of Medical Laboratory Sciences-IUG, Gaza, Palestine.
Acute lymphoblastic leukemia (ALL) is the most frequent type of pediatric cancer. Germline single nucleotide polymorphisms (SNPs), including (rs10821936 T/C), (rs4132601 T/G), (rs3824662 G/T), (rs2239633 G/A), and (rs3731217 A/C) have been linked to pediatric ALL in different populations. Hitherto, no previous studies have tested the relationship between these SNPs and pediatric ALL in Gaza strip.
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Clinical laboratory.
Various studies have shown that single nucleotide polymorphisms in the AT-rich interaction domain 5B (ARID5B), IKAROS family zinc finger 1 (IKZF1), phosphatidylinositol-5-phosphate 4-kinase type 2 alpha (PIP4K2A), and GATA binding protein 3 (GATA3) genes may be associated with the susceptibility and prognosis of childhood acute lymphoblastic leukemia (ALL). The present study aimed to investigate the association of ARID5B rs10821936, IKZF1 rs4132601, PIP4K2A rs7088318, and GATA3 rs3824662 gene polymorphisms with the susceptibility and prognosis of childhood ALL in China. We found that the C allele of rs10821936 (ARID5B) and the A allele of rs3824662 (GATA3) were associated with an increased risk of childhood ALL in the Chinese population.
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Center for Genetic Epidemiology, Department of Population and Public Health Sciences, University of Southern California, Los Angeles, CA 90033, USA.
Genome-wide association studies have identified a growing number of single nucleotide polymorphisms (SNPs) associated with childhood acute lymphoblastic leukemia (ALL), yet the functional roles of most SNPs are unclear. Multiple lines of evidence suggest that epigenetic mechanisms may mediate the impact of heritable genetic variation on phenotypes. Here, we investigated whether DNA methylation mediates the effect of genetic risk loci for childhood ALL.
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