{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T03:28:27Z","timestamp":1789010907856,"version":"build-2803163510"},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,1,15]],"date-time":"2018-01-15T00:00:00Z","timestamp":1515974400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2018,1,15]],"date-time":"2018-01-15T00:00:00Z","timestamp":1515974400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genome-wide association studies (GWAS) performed mostly in populations of European and Hispanic ancestry have confirmed an inherited genetic basis for childhood acute lymphoblastic leukemia (ALL), but these associations are less clear in other races\/ethnicities. DNA samples from ALL patients (aged 0\u201319 years) previously enrolled onto a Tokyo Children\u2019s Cancer Study Group trial were collected during 2013\u20132015, and underwent single nucleotide polymorphism (SNP) microarray genotyping resulting in 527 B-cell ALL for analysis. Cases and control data for 3,882 samples from the Nagahama Study Group and Aichi Cancer Center Study were combined, and association analyses across 10\u00a0previous GWAS-identified regions were performed after targeted SNP imputation. Linkage disequilibrium (LD) patterns in Japanese and other populations were evaluated using the varLD score based on 1000 Genomes data. Risk associations for <jats:italic>ARID5B<\/jats:italic> (rs10821936, OR\u2009=\u20091.84, <jats:italic>P<\/jats:italic>\u2009=\u20096\u2009\u00d7\u200910<jats:sup>\u221217<\/jats:sup>) and <jats:italic>PIP4K<\/jats:italic>2<jats:italic>A<\/jats:italic> (rs7088318, OR\u2009=\u20090.76, <jats:italic>P<\/jats:italic>\u2009=\u20092\u2009\u00d7\u200910<jats:sup>\u22124<\/jats:sup>) directly transferred to Japanese, and the <jats:italic>IKZF1<\/jats:italic> association was detected by an alternate SNP (rs1451367, OR\u2009=\u20091.52, <jats:italic>P<\/jats:italic>\u2009=\u20092\u2009\u00d7\u200910<jats:sup>\u22126<\/jats:sup>). Marked regional LD differences between Japanese and Europeans was observed for most of the remaining loci for which associations did not transfer, including <jats:italic>CEBPE<\/jats:italic>, <jats:italic>CDKN2A<\/jats:italic>, <jats:italic>CDKN2B<\/jats:italic>, and <jats:italic>ELK3<\/jats:italic>. This study represents a first step towards characterizing the role of genetic susceptibility in childhood ALL risk in Japanese.<\/jats:p>","DOI":"10.1038\/s41598-017-19127-7","type":"journal-article","created":{"date-parts":[[2018,1,9]],"date-time":"2018-01-09T17:24:14Z","timestamp":1515518654000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Regional evaluation of childhood acute lymphoblastic leukemia genetic susceptibility loci among Japanese"],"prefix":"10.1038","volume":"8","author":[{"given":"Kevin Y.","family":"Urayama","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7580-9184","authenticated-orcid":false,"given":"Masatoshi","family":"Takagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahisa","family":"Kawaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1761-6314","authenticated-orcid":false,"given":"Keitaro","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Ayukawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Arakawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Yuza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Kaneko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Noguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichi","family":"Taneyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Setsuo","family":"Ota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Inukai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masakatsu","family":"Yanagimachi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dai","family":"Keino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazutoshi","family":"Koike","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Toyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0793-815X","authenticated-orcid":false,"given":"Yozo","family":"Nakazawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidemitsu","family":"Kurosawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kozue","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Moriwaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Goto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yujin","family":"Sekinaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Morita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Motohiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junko","family":"Takita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6201-9784","authenticated-orcid":false,"given":"Toshihiro","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johji","family":"Inazawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuyoshi","family":"Koh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Ishida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Ohara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuki","family":"Mizutani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumihiko","family":"Matsuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6698-2348","authenticated-orcid":false,"given":"Atsushi","family":"Manabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,1,15]]},"reference":[{"key":"19127_CR1","doi-asserted-by":"publisher","first-page":"3988","DOI":"10.1182\/blood-2014-12-580001","volume":"125","author":"T Moriyama","year":"2015","unstructured":"Moriyama, T., Relling, M. V. & Yang, J. J. Inherited genetic variation in childhood acute lymphoblastic leukemia. Blood 125, 3988\u20133995, https:\/\/doi.org\/10.1182\/blood-2014-12-580001 (2015).","journal-title":"Blood"},{"key":"19127_CR2","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/s12185-012-1220-9","volume":"97","author":"KY Urayama","year":"2013","unstructured":"Urayama, K. Y., Chokkalingam, A. P., Manabe, A. & Mizutani, S. Current evidence for an inherited genetic basis of childhood acute lymphoblastic leukemia. Int J Hematol 97, 3\u201319, https:\/\/doi.org\/10.1007\/s12185-012-1220-9 (2013).","journal-title":"Int J Hematol"},{"key":"19127_CR3","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10635","volume":"7","author":"EA Hungate","year":"2016","unstructured":"Hungate, E. A. et al. A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology. Nat Commun 7, 10635, https:\/\/doi.org\/10.1038\/ncomms10635 (2016).","journal-title":"Nat Commun"},{"key":"19127_CR4","doi-asserted-by":"publisher","unstructured":"Vijayakrishnan, J. et al. A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1. Leukemia, https:\/\/doi.org\/10.1038\/leu.2016.271 (2016).","DOI":"10.1038\/leu.2016.271"},{"key":"19127_CR5","doi-asserted-by":"publisher","first-page":"2873","DOI":"10.1093\/hmg\/ddw112","volume":"25","author":"Y Shi","year":"2016","unstructured":"Shi, Y. et al. Identification of a novel susceptibility locus at 16q23.1 associated with childhood acute lymphoblastic leukemia in Han Chinese. Hum Mol Genet 25, 2873\u20132880, https:\/\/doi.org\/10.1093\/hmg\/ddw112 (2016).","journal-title":"Hum Mol Genet"},{"key":"19127_CR6","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1097\/EDE.0b013e31824da7cc","volume":"23","author":"DJ Hunter","year":"2012","unstructured":"Hunter, D. J. Lessons from genome-wide association studies for epidemiology. Epidemiology 23, 363\u2013367, https:\/\/doi.org\/10.1097\/EDE.0b013e31824da7cc (2012).","journal-title":"Epidemiology"},{"key":"19127_CR7","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1038\/ng0710-558","volume":"42","author":"G Gibson","year":"2010","unstructured":"Gibson, G. Hints of hidden heritability in GWAS. Nat Genet 42, 558\u2013560, https:\/\/doi.org\/10.1038\/ng0710-558 (2010).","journal-title":"Nat Genet"},{"key":"19127_CR8","first-page":"2242","volume":"55","author":"KY Urayama","year":"2014","unstructured":"Urayama, K. Y. & Manabe, A. Genomic evaluations of childhood acute lymphoblastic leukemia susceptibility across race\/ethnicities. [Rinsho ketsueki] The Japanese Journal of Clinical Hematology 55, 2242\u20132248 (2014).","journal-title":"[Rinsho ketsueki] The Japanese Journal of Clinical Hematology"},{"key":"19127_CR9","doi-asserted-by":"publisher","first-page":"e113748","DOI":"10.1371\/journal.pone.0113748","volume":"9","author":"YE Dai","year":"2014","unstructured":"Dai, Y. E., Tang, L., Healy, J. & Sinnett, D. Contribution of polymorphisms in IKZF1 gene to childhood acute leukemia: a meta-analysis of 33 case-control studies. PLoS One 9, e113748, https:\/\/doi.org\/10.1371\/journal.pone.0113748 (2014).","journal-title":"PLoS One"},{"key":"19127_CR10","doi-asserted-by":"publisher","first-page":"e0125657","DOI":"10.1371\/journal.pone.0125657","volume":"10","author":"J Sun","year":"2015","unstructured":"Sun, J. et al. Association between CEBPE Variant and Childhood Acute Leukemia Risk: Evidence from a Meta-Analysis of 22 Studies. PLoS One 10, e0125657, https:\/\/doi.org\/10.1371\/journal.pone.0125657 (2015).","journal-title":"PLoS One"},{"key":"19127_CR11","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1111\/bjh.12602","volume":"164","author":"Y Ishida","year":"2014","unstructured":"Ishida, Y. et al. Secondary cancers among children with acute lymphoblastic leukaemia treated by the Tokyo Children\u2019s Cancer Study Group protocols: a retrospective cohort study. Br J Haematol 164, 101\u2013112, https:\/\/doi.org\/10.1111\/bjh.12602 (2014).","journal-title":"Br J Haematol"},{"key":"19127_CR12","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1038\/leu.2016.274","volume":"31","author":"M Kato","year":"2017","unstructured":"Kato, M. et al. Long-term outcome of 6-month maintenance chemotherapy for acute lymphoblastic leukemia in children. Leukemia 31, 580\u2013584, https:\/\/doi.org\/10.1038\/leu.2016.274 (2017).","journal-title":"Leukemia"},{"key":"19127_CR13","doi-asserted-by":"publisher","first-page":"e3371","DOI":"10.1097\/MD.0000000000003371","volume":"95","author":"S Muro","year":"2016","unstructured":"Muro, S. et al. Relationship Among Chlamydia and Mycoplasma Pneumoniae Seropositivity, IKZF1 Genotype and Chronic Obstructive Pulmonary Disease in A General Japanese Population: The Nagahama Study. Medicine 95, e3371, https:\/\/doi.org\/10.1097\/MD.0000000000003371 (2016).","journal-title":"Medicine"},{"key":"19127_CR14","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1093\/hmg\/ddw414","volume":"26","author":"WJ Seow","year":"2017","unstructured":"Seow, W. J. et al. Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations. Hum Mol Genet 26, 454\u2013465, https:\/\/doi.org\/10.1093\/hmg\/ddw414 (2017).","journal-title":"Hum Mol Genet"},{"key":"19127_CR15","doi-asserted-by":"publisher","first-page":"1031","DOI":"10.1111\/all.12885","volume":"71","author":"Y Izuhara","year":"2016","unstructured":"Izuhara, Y. et al. Mouth breathing, another risk factor for asthma: the Nagahama Study. Allergy 71, 1031\u20131036, https:\/\/doi.org\/10.1111\/all.12885 (2016).","journal-title":"Allergy"},{"key":"19127_CR16","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1093\/ije\/dyg062","volume":"32","author":"M Inoue","year":"2003","unstructured":"Inoue, M. et al. Epidemiology of pancreatic cancer in Japan: a nested case-control study from the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC). International journal of epidemiology 32, 257\u2013262 (2003).","journal-title":"International journal of epidemiology"},{"key":"19127_CR17","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1016\/j.ajhg.2008.08.019","volume":"83","author":"Y Yamaguchi-Kabata","year":"2008","unstructured":"Yamaguchi-Kabata, Y. et al. Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies. Am J Hum Genet 83, 445\u2013456, https:\/\/doi.org\/10.1016\/j.ajhg.2008.08.019 (2008).","journal-title":"Am J Hum Genet"},{"key":"19127_CR18","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1038\/ng1847","volume":"38","author":"AL Price","year":"2006","unstructured":"Price, A. L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38, 904\u2013909, https:\/\/doi.org\/10.1038\/ng1847 (2006).","journal-title":"Nat Genet"},{"key":"19127_CR19","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1038\/ng.3583","volume":"48","author":"J O\u2019Connell","year":"2016","unstructured":"O\u2019Connell, J. et al. Haplotype estimation for biobank-scale data sets. Nat Genet 48, 817\u2013820, https:\/\/doi.org\/10.1038\/ng.3583 (2016).","journal-title":"Nat Genet"},{"key":"19127_CR20","doi-asserted-by":"publisher","first-page":"1284","DOI":"10.1038\/ng.3656","volume":"48","author":"S Das","year":"2016","unstructured":"Das, S. et al. Next-generation genotype imputation service and methods. Nat Genet 48, 1284\u20131287, https:\/\/doi.org\/10.1038\/ng.3656 (2016).","journal-title":"Nat Genet"},{"key":"19127_CR21","doi-asserted-by":"publisher","unstructured":"1000 Genomes Project Consortium. A global reference for human genetic variation. Nature 526, 68\u201374, https:\/\/doi.org\/10.1038\/nature15393 (2015).","DOI":"10.1038\/nature15393"},{"key":"19127_CR22","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81, 559\u2013575, https:\/\/doi.org\/10.1086\/519795 (2007).","journal-title":"Am J Hum Genet"},{"key":"19127_CR23","doi-asserted-by":"publisher","first-page":"2336","DOI":"10.1093\/bioinformatics\/btq419","volume":"26","author":"RJ Pruim","year":"2010","unstructured":"Pruim, R. J. et al. LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 26, 2336\u20132337, https:\/\/doi.org\/10.1093\/bioinformatics\/btq419 (2010).","journal-title":"Bioinformatics"},{"key":"19127_CR24","doi-asserted-by":"publisher","first-page":"1269","DOI":"10.1093\/bioinformatics\/btq125","volume":"26","author":"RT Ong","year":"2010","unstructured":"Ong, R. T. & Teo, Y. Y. varLD: a program for quantifying variation in linkage disequilibrium patterns between populations. Bioinformatics 26, 1269\u20131270, https:\/\/doi.org\/10.1093\/bioinformatics\/btq125 (2010).","journal-title":"Bioinformatics"},{"key":"19127_CR25","doi-asserted-by":"publisher","first-page":"1849","DOI":"10.1101\/gr.092189.109","volume":"19","author":"YY Teo","year":"2009","unstructured":"Teo, Y. Y. et al. Genome-wide comparisons of variation in linkage disequilibrium. Genome Res 19, 1849\u20131860, https:\/\/doi.org\/10.1101\/gr.092189.109 (2009).","journal-title":"Genome Res"},{"key":"19127_CR26","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14616","volume":"8","author":"JB Studd","year":"2017","unstructured":"Studd, J. B. et al. Genetic and regulatory mechanism of susceptibility to high-hyperdiploid acute lymphoblastic leukaemia at 10p21.2. Nat Commun 8, 14616, https:\/\/doi.org\/10.1038\/ncomms14616 (2017).","journal-title":"Nat Commun"},{"key":"19127_CR27","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1038\/ng.432","volume":"41","author":"LR Trevino","year":"2009","unstructured":"Trevino, L. R. et al. Germline genomic variants associated with childhood acute lymphoblastic leukemia. Nat Genet 41, 1001\u20131005, https:\/\/doi.org\/10.1038\/ng.432 (2009).","journal-title":"Nat Genet"},{"key":"19127_CR28","doi-asserted-by":"publisher","first-page":"1006","DOI":"10.1038\/ng.430","volume":"41","author":"E Papaemmanuil","year":"2009","unstructured":"Papaemmanuil, E. et al. Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Nat Genet 41, 1006\u20131010, https:\/\/doi.org\/10.1038\/ng.430 (2009).","journal-title":"Nat Genet"},{"key":"19127_CR29","doi-asserted-by":"publisher","first-page":"6211","DOI":"10.7314\/APJCP.2014.15.15.6211","volume":"15","author":"H Zeng","year":"2014","unstructured":"Zeng, H. et al. Associations between AT-rich interactive domain 5B gene polymorphisms and risk of childhood acute lymphoblastic leukemia: a meta-analysis. Asian Pac J Cancer Prev 15, 6211\u20136217 (2014).","journal-title":"Asian Pac J Cancer Prev"},{"key":"19127_CR30","doi-asserted-by":"publisher","first-page":"894","DOI":"10.1038\/leu.2009.277","volume":"24","author":"W Yang","year":"2010","unstructured":"Yang, W. 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 24, 894\u2013896, https:\/\/doi.org\/10.1038\/leu.2009.277 (2010).","journal-title":"Leukemia"},{"key":"19127_CR31","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1200\/JCO.2011.38.0345","volume":"30","author":"H Xu","year":"2012","unstructured":"Xu, H. et al. ARID5B genetic polymorphisms contribute to racial disparities in the incidence and treatment outcome of childhood acute lymphoblastic leukemia. J Clin Oncol 30, 751\u2013757, https:\/\/doi.org\/10.1200\/JCO.2011.38.0345 (2012).","journal-title":"J Clin Oncol"},{"key":"19127_CR32","doi-asserted-by":"publisher","first-page":"2416","DOI":"10.1038\/leu.2013.130","volume":"27","author":"KM Walsh","year":"2013","unstructured":"Walsh, K. M. et al. Associations between genome-wide Native American ancestry, known risk alleles and B-cell ALL risk in Hispanic children. Leukemia 27, 2416\u20132419, https:\/\/doi.org\/10.1038\/leu.2013.130 (2013).","journal-title":"Leukemia"},{"key":"19127_CR33","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1016\/j.ajhg.2010.04.003","volume":"86","author":"K Wang","year":"2010","unstructured":"Wang, K. et al. Interpretation of association signals and identification of causal variants from genome-wide association studies. Am J Hum Genet 86, 730\u2013742, https:\/\/doi.org\/10.1016\/j.ajhg.2010.04.003 (2010).","journal-title":"Am J Hum Genet"},{"key":"19127_CR34","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1038\/ng.585","volume":"42","author":"AL Sherborne","year":"2010","unstructured":"Sherborne, A. L. et al. Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk. Nat Genet 42, 492\u2013494, https:\/\/doi.org\/10.1038\/ng.585 (2010).","journal-title":"Nat Genet"},{"key":"19127_CR35","doi-asserted-by":"publisher","DOI":"10.1038\/srep15065","volume":"5","author":"J Vijayakrishnan","year":"2015","unstructured":"Vijayakrishnan, J. et al. The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A. Sci Rep 5, 15065, https:\/\/doi.org\/10.1038\/srep15065 (2015).","journal-title":"Sci Rep"},{"key":"19127_CR36","doi-asserted-by":"publisher","first-page":"4884","DOI":"10.1158\/0008-5472.CAN-15-1105","volume":"75","author":"KM Walsh","year":"2015","unstructured":"Walsh, K. M. et al. A Heritable Missense Polymorphism in CDKN2A Confers Strong Risk of Childhood Acute Lymphoblastic Leukemia and Is Preferentially Selected during Clonal Evolution. Cancer Res 75, 4884\u20134894, https:\/\/doi.org\/10.1158\/0008-5472.CAN-15-1105 (2015).","journal-title":"Cancer Res"},{"key":"19127_CR37","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8553","volume":"6","author":"H Xu","year":"2015","unstructured":"Xu, H. et al. Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children. Nat Commun 6, 7553, https:\/\/doi.org\/10.1038\/ncomms8553 (2015).","journal-title":"Nat Commun"},{"key":"19127_CR38","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/4482","volume":"21","author":"A Chakravarti","year":"1999","unstructured":"Chakravarti, A. Population genetics\u2013making sense out of sequence. Nat Genet 21, 56\u201360, https:\/\/doi.org\/10.1038\/4482 (1999).","journal-title":"Nat Genet"},{"key":"19127_CR39","doi-asserted-by":"publisher","first-page":"1494","DOI":"10.1038\/ng.2803","volume":"45","author":"V Perez-Andreu","year":"2013","unstructured":"Perez-Andreu, V. et al. Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse. Nat Genet 45, 1494\u20131498, https:\/\/doi.org\/10.1038\/ng.2803 (2013).","journal-title":"Nat Genet"},{"key":"19127_CR40","doi-asserted-by":"publisher","first-page":"3298","DOI":"10.1182\/blood-2013-03-491316","volume":"122","author":"G Migliorini","year":"2013","unstructured":"Migliorini, G. et al. Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. Blood 122, 3298\u20133307, https:\/\/doi.org\/10.1182\/blood-2013-03-491316 (2013).","journal-title":"Blood"},{"key":"19127_CR41","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1038\/leu.2009.260","volume":"24","author":"M Tsuchida","year":"2010","unstructured":"Tsuchida, M. et al. Long-term results of Tokyo Children\u2019s Cancer Study Group trials for childhood acute lymphoblastic leukemia, 1984\u20131999. Leukemia 24, 383\u2013396, https:\/\/doi.org\/10.1038\/leu.2009.260 (2010).","journal-title":"Leukemia"},{"key":"19127_CR42","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1093\/jnci\/djt042","volume":"105","author":"H Xu","year":"2013","unstructured":"Xu, H. et al. Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. J Natl Cancer Inst 105, 733\u2013742, https:\/\/doi.org\/10.1093\/jnci\/djt042 (2013).","journal-title":"J Natl Cancer Inst"},{"key":"19127_CR43","doi-asserted-by":"publisher","first-page":"3385","DOI":"10.1182\/blood-2013-08-524124","volume":"122","author":"KM Walsh","year":"2013","unstructured":"Walsh, K. M. et al. GATA3 risk alleles are associated with ancestral components in Hispanic children with ALL. Blood 122, 3385\u20133387, https:\/\/doi.org\/10.1182\/blood-2013-08-524124 (2013).","journal-title":"Blood"}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-017-19127-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-017-19127-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-017-19127-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T01:07:06Z","timestamp":1671584826000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-017-19127-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,15]]},"references-count":43,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2018,12]]}},"alternative-id":["19127"],"URL":"https:\/\/doi.org\/10.1038\/s41598-017-19127-7","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,15]]},"assertion":[{"value":"6 October 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 December 2017","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 January 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare that they have no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"789"}}