title: Association of three polymorphisms in ARID5B, IKZF1 and CEBPE with the risk of childhood acute lymphoblastic leukemia in a Chinese population.
abstract: Recent genome-wide association studies (GWAS) that focus on childhood acute lymphoblastic leukemia (ALL), the most common malignancy in children younger than 15 years old, have found evidence that single nucleotide polymorphisms (SNPs) in IKZF1 (7p12.2), ARID5B (10q21.2) and CEBPE (14q11.2) are strongly related to the risk of childhood ALL. These polymorphisms may lead to abnormal expression and dysfunction of the corresponding transcription factors and are likely to increase the risk of ALL. To validate the relationship between these SNPs and the risk of childhood ALL in Chinese population, we conducted a case-control study of 570 ALL cases and 673 controls. We determined that the SNP rs10821936 in ARID5B was statistically significantly associated with the risk of childhood ALL (P<0.0001). The results were also significant for the subgroup analysis of high-risk, medium-risk and low-risk ALL as well as B-lineage ALL. Statistically significant differences were not found in the SNPs for IKZF1 and CEBPE. In conclusion, ARID5B rs10821936 could serve as a potential biomarker for assessing the risk of childhood ALL in Chinese children.
authors.affiliation: Department of Hematology and Oncology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing 210008, China.
authors.forename: Yaping
authors.initials: Y
authors.lastname: Wang
authors.forename: Jing
authors.initials: J
authors.lastname: Chen
authors.forename: Jie
authors.initials: J
authors.lastname: Li
authors.forename: Jianping
authors.initials: J
authors.lastname: Deng
authors.forename: Yaoyao
authors.initials: Y
authors.lastname: Rui
authors.forename: Qin
authors.initials: Q
authors.lastname: Lu
authors.forename: Meilin
authors.initials: M
authors.lastname: Wang
authors.forename: Na
authors.initials: N
authors.lastname: Tong
authors.forename: Zhengdong
authors.initials: Z
authors.lastname: Zhang
authors.forename: Yongjun
authors.initials: Y
authors.lastname: Fang
mesh_terms: D000293:Adolescent; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D015415:Biomarkers / Q000032:analysis; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D006579:Heterozygote; D006801:Humans; D051740:Ikaros Transcription Factor / Q000235:genetics*; D007223:Infant; D008297:Male; D020641:Polymorphism, Single Nucleotide; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000208:ethnology / Q000235:genetics*; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C503805:ARID5B protein, human; D015415:Biomarkers; D022762:CCAAT-Enhancer-Binding Proteins; D004268:DNA-Binding Proteins; C497239:IKZF1 protein, human; D014157:Transcription Factors; C070790:CEBPE protein, human; D051740:Ikaros Transcription Factor