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Published in: International Journal of Hematology 3/2019

01-09-2019 | Acute Lymphoblastic Leukemia | Review Article

ARID5B gene polymorphisms and the risk of childhood acute lymphoblastic leukemia: a meta-analysis

Authors: Ju-Le Yang, Yi-Ni Liu, Yong-Yi Bi, Hong Wang

Published in: International Journal of Hematology | Issue 3/2019

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Abstract

Genome-wide association studies have implicated several single-nucleotide polymorphisms (SNPs) in the AT-rich interactive domain 5B (ARID5B) gene in children with ALL; however, whether ARID5B variants (rs10821936, rs10994982, rs7089424) are associated with childhood ALL remains controversial. We performed this study to obtain more conclusive results. Eligible studies were searched in PubMed, Web of Science, and EMBASE. Odds ratios and 95% confidence intervals were calculated. A total of 26 studies were included. Analyses stratified by ethnicity revealed that three polymorphisms are significantly associated with the odds of childhood ALL in Caucasians, and rs10994982 and rs7089424 with the odds of childhood ALL in Asian populations. Furthermore, subtype analyses provided strong evidence that the three polymorphisms are highly associated with the risk of B-cell ALL. Our findings indicate that the ARID5B variants (rs10821936, rs10994982, rs7089424) are significantly associated with the risk of childhood ALL.
Literature
1.
go back to reference Linabery AM, Blommer CN, Spector LG, Davies SM, Robison LL, Ross JA. ARID5B and IKZF1 variants, selected demographic factors, and childhood acute lymphoblastic leukemia: a report from the Children’s Oncology Group. Leuk Res. 2013;37(8):936–42.CrossRefPubMedPubMedCentral Linabery AM, Blommer CN, Spector LG, Davies SM, Robison LL, Ross JA. ARID5B and IKZF1 variants, selected demographic factors, and childhood acute lymphoblastic leukemia: a report from the Children’s Oncology Group. Leuk Res. 2013;37(8):936–42.CrossRefPubMedPubMedCentral
2.
go back to reference Jiang Y, Hou J, Zhang Q, Jia ST, Wang BY, Zhang JH, et al. The MTHFR C677T polymorphism and risk of acute lymphoblastic leukemia: an updated meta-analysis based on 37 case-control studies. Asian Pac J Cancer Prev. 2013;14(11):6357–62.CrossRefPubMed Jiang Y, Hou J, Zhang Q, Jia ST, Wang BY, Zhang JH, et al. The MTHFR C677T polymorphism and risk of acute lymphoblastic leukemia: an updated meta-analysis based on 37 case-control studies. Asian Pac J Cancer Prev. 2013;14(11):6357–62.CrossRefPubMed
3.
go back to reference Ross JA, Linabery AM, Blommer CN, Langer EK, Spector LG, Hilden JM, et al. Genetic variants modify susceptibility to leukemia in infants: a Children’s Oncology Group report. Pediatr Blood Cancer. 2013;60(1):31–4.CrossRefPubMed Ross JA, Linabery AM, Blommer CN, Langer EK, Spector LG, Hilden JM, et al. Genetic variants modify susceptibility to leukemia in infants: a Children’s Oncology Group report. Pediatr Blood Cancer. 2013;60(1):31–4.CrossRefPubMed
4.
go back to reference Huang X, Ma D, Dong W, Li P, Lu T, He N, et al. Gene expression profiling of the DNMT3A R882 mutation in acute leukemia. Oncol Lett. 2013;6(1):268–74.CrossRefPubMedPubMedCentral Huang X, Ma D, Dong W, Li P, Lu T, He N, et al. Gene expression profiling of the DNMT3A R882 mutation in acute leukemia. Oncol Lett. 2013;6(1):268–74.CrossRefPubMedPubMedCentral
5.
go back to reference Imai K. Acute lymphoblastic leukemia: pathophysiology and current therapy. Rinsho Ketsueki. 2017;58(5):460–70.PubMed Imai K. Acute lymphoblastic leukemia: pathophysiology and current therapy. Rinsho Ketsueki. 2017;58(5):460–70.PubMed
6.
go back to reference Trevino LR, Yang W, French D, Hunger SP, Carroll WL, Devidas M, et al. Germline genomic variants associated with childhood acute lymphoblastic leukemia. Nat Genet. 2009;41(9):1001–5.CrossRefPubMedPubMedCentral Trevino LR, Yang W, French D, Hunger SP, Carroll WL, Devidas M, et al. Germline genomic variants associated with childhood acute lymphoblastic leukemia. Nat Genet. 2009;41(9):1001–5.CrossRefPubMedPubMedCentral
7.
go back to reference Papaemmanuil E, Hosking FJ, Vijayakrishnan J, Price A, Olver B, Sheridan E, et al. Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Nat Genet. 2009;41(9):1006–10.CrossRefPubMedPubMedCentral Papaemmanuil E, Hosking FJ, Vijayakrishnan J, Price A, Olver B, Sheridan E, et al. Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Nat Genet. 2009;41(9):1006–10.CrossRefPubMedPubMedCentral
8.
go back to reference Huang TH, Oka T, Asai T, Okada T, Merrills BW, Gertson PN, et al. Repression by a differentiation-specific factor of the human cytomegalovirus enhancer. Nucleic Acids Res. 1996;24(9):1695–701.CrossRefPubMedPubMedCentral Huang TH, Oka T, Asai T, Okada T, Merrills BW, Gertson PN, et al. Repression by a differentiation-specific factor of the human cytomegalovirus enhancer. Nucleic Acids Res. 1996;24(9):1695–701.CrossRefPubMedPubMedCentral
9.
go back to reference Wilsker D, Patsialou A, Dallas PB, Moran E. ARID proteins: a diverse family of DNA binding proteins implicated in the control of cell growth, differentiation, and development. Cell Growth Differ. 2002;13(3):95–106.PubMed Wilsker D, Patsialou A, Dallas PB, Moran E. ARID proteins: a diverse family of DNA binding proteins implicated in the control of cell growth, differentiation, and development. Cell Growth Differ. 2002;13(3):95–106.PubMed
10.
go back to reference Wang Y, Chen J, Li J, Deng J, Rui Y, Lu Q, et al. Association of three polymorphisms in ARID5B, IKZF1 and CEBPE with the risk of childhood acute lymphoblastic leukemia in a Chinese population. Gene. 2013;524(2):203–7.CrossRefPubMed Wang Y, Chen J, Li J, Deng J, Rui Y, Lu Q, et al. Association of three polymorphisms in ARID5B, IKZF1 and CEBPE with the risk of childhood acute lymphoblastic leukemia in a Chinese population. Gene. 2013;524(2):203–7.CrossRefPubMed
11.
go back to reference Lin CY, Li MJ, Chang JG, Liu SC, Weng T, Wu KH, et al. High-resolution melting analyses for genetic variants in ARID5B and IKZF1 with childhood acute lymphoblastic leukemia susceptibility loci in Taiwan. Blood Cells Mol Dis. 2014;52(2–3):140–5.CrossRefPubMed Lin CY, Li MJ, Chang JG, Liu SC, Weng T, Wu KH, et al. High-resolution melting analyses for genetic variants in ARID5B and IKZF1 with childhood acute lymphoblastic leukemia susceptibility loci in Taiwan. Blood Cells Mol Dis. 2014;52(2–3):140–5.CrossRefPubMed
12.
go back to reference Urayama KY, Takagi M, Kawaguchi T, Matsuo K, Tanaka Y, Ayukawa Y, et al. Regional evaluation of childhood acute lymphoblastic leukemia genetic susceptibility loci among Japanese. Sci Rep. 2018;8(1):789.CrossRefPubMedPubMedCentral Urayama KY, Takagi M, Kawaguchi T, Matsuo K, Tanaka Y, Ayukawa Y, et al. Regional evaluation of childhood acute lymphoblastic leukemia genetic susceptibility loci among Japanese. Sci Rep. 2018;8(1):789.CrossRefPubMedPubMedCentral
13.
go back to reference Kreile M, Rots D, Zarina A, Rautiainen L, Visnevska-Preciniece Z, Kovalova Z, et al. Association of ARID5B genetic variants with risk of childhood B cell precursor acute lymphoblastic leukaemia in Latvia. Asian Pac J Cancer Prev. 2018;19(1):91–5.PubMedPubMedCentral Kreile M, Rots D, Zarina A, Rautiainen L, Visnevska-Preciniece Z, Kovalova Z, et al. Association of ARID5B genetic variants with risk of childhood B cell precursor acute lymphoblastic leukaemia in Latvia. Asian Pac J Cancer Prev. 2018;19(1):91–5.PubMedPubMedCentral
14.
go back to reference Archer NP, Perez-Andreu V, Stoltze U, Scheurer ME, Wilkinson AV, Lin TN, et al. Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility. PLoS One. 2017;12(8):e0180488.CrossRefPubMedPubMedCentral Archer NP, Perez-Andreu V, Stoltze U, Scheurer ME, Wilkinson AV, Lin TN, et al. Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility. PLoS One. 2017;12(8):e0180488.CrossRefPubMedPubMedCentral
15.
go back to reference Al-Absi B, Noor SM, Saif-Ali R, Salem SD, Ahmed RH, Razif MF, et al. Association of ARID5B gene variants with acute lymphoblastic leukemia in Yemeni children. Tumour Biol. 2017;39(4):1010428317697573.CrossRefPubMed Al-Absi B, Noor SM, Saif-Ali R, Salem SD, Ahmed RH, Razif MF, et al. Association of ARID5B gene variants with acute lymphoblastic leukemia in Yemeni children. Tumour Biol. 2017;39(4):1010428317697573.CrossRefPubMed
16.
go back to reference Kreile M, Piekuse L, Rots D, Dobele Z, Kovalova Z, Lace B. Analysis of possible genetic risk factors contributing to development of childhood acute lymphoblastic leukaemia in the Latvian population. Arch Med Sci. 2016;12(3):479–85.CrossRefPubMedPubMedCentral Kreile M, Piekuse L, Rots D, Dobele Z, Kovalova Z, Lace B. Analysis of possible genetic risk factors contributing to development of childhood acute lymphoblastic leukaemia in the Latvian population. Arch Med Sci. 2016;12(3):479–85.CrossRefPubMedPubMedCentral
17.
go back to reference Bhandari P, Ahmad F, Mandava S, Das BR. Association of genetic variants in ARID5B, IKZF1 and CEBPE with risk of childhood de novo B-lineage acute lymphoblastic leukemia in India. Asian Pac J Cancer Prev. 2016;17(8):3989–95.PubMed Bhandari P, Ahmad F, Mandava S, Das BR. Association of genetic variants in ARID5B, IKZF1 and CEBPE with risk of childhood de novo B-lineage acute lymphoblastic leukemia in India. Asian Pac J Cancer Prev. 2016;17(8):3989–95.PubMed
18.
go back to reference Bekker-Mendez VC, Nunez-Enriquez JC, Torres Escalante JL, Alvarez-Olmos E, Gonzalez-Montalvoc PM, Jimenez-Hernandez E, et al. ARID5B, CEBPE and PIP4K2A germline genetic polymorphisms and risk of childhood acute lymphoblastic leukemia in Mexican patients: a MIGICCL study. Arch Med Res. 2016;47(8):623–8.CrossRefPubMed Bekker-Mendez VC, Nunez-Enriquez JC, Torres Escalante JL, Alvarez-Olmos E, Gonzalez-Montalvoc PM, Jimenez-Hernandez E, et al. ARID5B, CEBPE and PIP4K2A germline genetic polymorphisms and risk of childhood acute lymphoblastic leukemia in Mexican patients: a MIGICCL study. Arch Med Res. 2016;47(8):623–8.CrossRefPubMed
19.
go back to reference Evans TJ, Milne E, Anderson D, de Klerk NH, Jamieson SE, Talseth-Palmer BA, et al. Confirmation of childhood acute lymphoblastic leukemia variants, ARID5B and IKZF1, and interaction with parental environmental exposures. PLoS One. 2014;9(10):e110255.CrossRefPubMedPubMedCentral Evans TJ, Milne E, Anderson D, de Klerk NH, Jamieson SE, Talseth-Palmer BA, et al. Confirmation of childhood acute lymphoblastic leukemia variants, ARID5B and IKZF1, and interaction with parental environmental exposures. PLoS One. 2014;9(10):e110255.CrossRefPubMedPubMedCentral
20.
go back to reference Xu H, Yang W, Perez-Andreu V, Devidas M, Fan Y, Cheng C, et al. Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. J Natl Cancer Inst. 2013;105(10):733–42.CrossRefPubMedPubMedCentral Xu H, Yang W, Perez-Andreu V, Devidas M, Fan Y, Cheng C, et al. Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. J Natl Cancer Inst. 2013;105(10):733–42.CrossRefPubMedPubMedCentral
21.
go back to reference Gutierrez-Camino A, Lopez-Lopez E, Martin-Guerrero I, Sanchez-Toledo J, Garcia de Andoin N, Carbone Baneres A, et al. Intron 3 of the ARID5B gene: a hot spot for acute lymphoblastic leukemia susceptibility. J Cancer Res Clin Oncol. 2013;139(11):1879–86.CrossRefPubMed Gutierrez-Camino A, Lopez-Lopez E, Martin-Guerrero I, Sanchez-Toledo J, Garcia de Andoin N, Carbone Baneres A, et al. Intron 3 of the ARID5B gene: a hot spot for acute lymphoblastic leukemia susceptibility. J Cancer Res Clin Oncol. 2013;139(11):1879–86.CrossRefPubMed
22.
go back to reference Chokkalingam AP, Hsu LI, Metayer C, Hansen HM, Month SR, Barcellos LF, et al. Genetic variants in ARID5B and CEBPE are childhood ALL susceptibility loci in Hispanics. Cancer Causes Control. 2013;24(10):1789–95.CrossRefPubMedPubMedCentral Chokkalingam AP, Hsu LI, Metayer C, Hansen HM, Month SR, Barcellos LF, et al. Genetic variants in ARID5B and CEBPE are childhood ALL susceptibility loci in Hispanics. Cancer Causes Control. 2013;24(10):1789–95.CrossRefPubMedPubMedCentral
23.
go back to reference Xu H, Cheng C, Devidas M, Pei D, Fan Y, Yang W, et al. ARID5B genetic polymorphisms contribute to racial disparities in the incidence and treatment outcome of childhood acute lymphoblastic leukemia. J Clin Oncol. 2012;30(7):751–7.CrossRefPubMedPubMedCentral Xu H, Cheng C, Devidas M, Pei D, Fan Y, Yang W, et al. ARID5B genetic polymorphisms contribute to racial disparities in the incidence and treatment outcome of childhood acute lymphoblastic leukemia. J Clin Oncol. 2012;30(7):751–7.CrossRefPubMedPubMedCentral
24.
go back to reference Orsi L, Rudant J, Bonaventure A, Goujon-Bellec S, Corda E, Evans TJ, et al. Genetic polymorphisms and childhood acute lymphoblastic leukemia: GWAS of the ESCALE study (SFCE). Leukemia. 2012;26(12):2561–4.CrossRefPubMed Orsi L, Rudant J, Bonaventure A, Goujon-Bellec S, Corda E, Evans TJ, et al. Genetic polymorphisms and childhood acute lymphoblastic leukemia: GWAS of the ESCALE study (SFCE). Leukemia. 2012;26(12):2561–4.CrossRefPubMed
25.
go back to reference Lautner-Csorba O, Gezsi A, Semsei AF, Antal P, Erdelyi DJ, Schermann G, et al. Candidate gene association study in pediatric acute lymphoblastic leukemia evaluated by Bayesian network based Bayesian multilevel analysis of relevance. BMC Med Genomics. 2012;5:42.CrossRefPubMedPubMedCentral Lautner-Csorba O, Gezsi A, Semsei AF, Antal P, Erdelyi DJ, Schermann G, et al. Candidate gene association study in pediatric acute lymphoblastic leukemia evaluated by Bayesian network based Bayesian multilevel analysis of relevance. BMC Med Genomics. 2012;5:42.CrossRefPubMedPubMedCentral
26.
go back to reference Yang W, Trevino LR, Yang JJ, Scheet P, Pui CH, Evans WE, et al. ARID5B SNP rs10821936 is associated with risk of childhood acute lymphoblastic leukemia in blacks and contributes to racial differences in leukemia incidence. Leukemia. 2010;24(4):894–6.CrossRefPubMedPubMedCentral Yang W, Trevino LR, Yang JJ, Scheet P, Pui CH, Evans WE, et al. ARID5B SNP rs10821936 is associated with risk of childhood acute lymphoblastic leukemia in blacks and contributes to racial differences in leukemia incidence. Leukemia. 2010;24(4):894–6.CrossRefPubMedPubMedCentral
27.
go back to reference Healy J, Richer C, Bourgey M, Kritikou EA, Sinnett D. Replication analysis confirms the association of ARID5B with childhood B-cell acute lymphoblastic leukemia. Haematologica. 2010;95(9):1608–11.CrossRefPubMedPubMedCentral Healy J, Richer C, Bourgey M, Kritikou EA, Sinnett D. Replication analysis confirms the association of ARID5B with childhood B-cell acute lymphoblastic leukemia. Haematologica. 2010;95(9):1608–11.CrossRefPubMedPubMedCentral
28.
go back to reference Gharbi H, Ben Hassine I, Soltani I, Safra I, Ouerhani S, Bel Haj Othmen H, et al. Association of genetic variation in IKZF1, ARID5B, CDKN2A, and CEBPE with the risk of acute lymphoblastic leukemia in Tunisian children and their contribution to racial differences in leukemia incidence. Pediatr Hematol Oncol. 2016;33(3):157–67.CrossRefPubMed Gharbi H, Ben Hassine I, Soltani I, Safra I, Ouerhani S, Bel Haj Othmen H, et al. Association of genetic variation in IKZF1, ARID5B, CDKN2A, and CEBPE with the risk of acute lymphoblastic leukemia in Tunisian children and their contribution to racial differences in leukemia incidence. Pediatr Hematol Oncol. 2016;33(3):157–67.CrossRefPubMed
29.
go back to reference Hsu LI, Chokkalingam AP, Briggs FB, Walsh K, Crouse V, Fu C, et al. Association of genetic variation in IKZF1, ARID5B, and CEBPE and surrogates for early-life infections with the risk of acute lymphoblastic leukemia in Hispanic children. Cancer Causes Control. 2015;26(4):609–19.CrossRefPubMedPubMedCentral Hsu LI, Chokkalingam AP, Briggs FB, Walsh K, Crouse V, Fu C, et al. Association of genetic variation in IKZF1, ARID5B, and CEBPE and surrogates for early-life infections with the risk of acute lymphoblastic leukemia in Hispanic children. Cancer Causes Control. 2015;26(4):609–19.CrossRefPubMedPubMedCentral
30.
go back to reference Pastorczak A, Gorniak P, Sherborne A, Hosking F, Trelinska J, Lejman M, et al. Role of 657del5 NBN mutation and 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B) and 14q11.2 (CEBPE) variation and risk of childhood ALL in the Polish population. Leuk Res. 2011;35(11):1534–6.CrossRefPubMed Pastorczak A, Gorniak P, Sherborne A, Hosking F, Trelinska J, Lejman M, et al. Role of 657del5 NBN mutation and 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B) and 14q11.2 (CEBPE) variation and risk of childhood ALL in the Polish population. Leuk Res. 2011;35(11):1534–6.CrossRefPubMed
31.
go back to reference Prasad RB, Hosking FJ, Vijayakrishnan J, Papaemmanuil E, Koehler R, Greaves M, et al. Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood. Blood. 2010;115(9):1765–7.CrossRefPubMed Prasad RB, Hosking FJ, Vijayakrishnan J, Papaemmanuil E, Koehler R, Greaves M, et al. Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood. Blood. 2010;115(9):1765–7.CrossRefPubMed
32.
go back to reference Greaves M. Infection, immune responses and the aetiology of childhood leukaemia. Nat Rev Cancer. 2006;6(3):193–203.CrossRefPubMed Greaves M. Infection, immune responses and the aetiology of childhood leukaemia. Nat Rev Cancer. 2006;6(3):193–203.CrossRefPubMed
33.
go back to reference Jensen K, Schaffer L, Olstad OK, Bechensteen AG, Hellebostad M, Tjonnfjord GE, et al. Striking decrease in the total precursor B-cell compartment during early childhood as evidenced by flow cytometry and gene expression changes. Pediatr Hematol Oncol. 2010;27(1):31–45.CrossRefPubMed Jensen K, Schaffer L, Olstad OK, Bechensteen AG, Hellebostad M, Tjonnfjord GE, et al. Striking decrease in the total precursor B-cell compartment during early childhood as evidenced by flow cytometry and gene expression changes. Pediatr Hematol Oncol. 2010;27(1):31–45.CrossRefPubMed
34.
go back to reference Zeng H, Wang XB, Cui NH, Nam S, Zeng T, Long X. Associations between AT-rich interactive domain 5B gene polymorphisms and risk of childhood acute lymphoblastic leukemia: a meta-analysis. Asian Pac J Cancer Prev. 2014;15(15):6211–7.CrossRefPubMed Zeng H, Wang XB, Cui NH, Nam S, Zeng T, Long X. Associations between AT-rich interactive domain 5B gene polymorphisms and risk of childhood acute lymphoblastic leukemia: a meta-analysis. Asian Pac J Cancer Prev. 2014;15(15):6211–7.CrossRefPubMed
35.
go back to reference Iqbal Z. Molecular genetic studies on 167 pediatric ALL patients from different areas of Pakistan confirm a low frequency of the favorable prognosis fusion oncogene TEL-AML1 (t 12; 21) in underdeveloped countries of the region. Asian Pac J Cancer Prev. 2014;15(8):3541–6.CrossRefPubMed Iqbal Z. Molecular genetic studies on 167 pediatric ALL patients from different areas of Pakistan confirm a low frequency of the favorable prognosis fusion oncogene TEL-AML1 (t 12; 21) in underdeveloped countries of the region. Asian Pac J Cancer Prev. 2014;15(8):3541–6.CrossRefPubMed
Metadata
Title
ARID5B gene polymorphisms and the risk of childhood acute lymphoblastic leukemia: a meta-analysis
Authors
Ju-Le Yang
Yi-Ni Liu
Yong-Yi Bi
Hong Wang
Publication date
01-09-2019
Publisher
Springer Japan
Published in
International Journal of Hematology / Issue 3/2019
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-019-02658-2

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