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dc.contributor.authorUrayama, Kevin Y.
dc.contributor.authorTakagi, Masatoshi
dc.contributor.authorKawaguchi, Takahisa
dc.contributor.authorMatsuo, Keitaro
dc.contributor.authorTanaka, Yoichi
dc.contributor.authorAyukawa, Yoko
dc.contributor.authorArakawa, Yuki
dc.contributor.authorHasegawa, Daisuke
dc.contributor.authorYuza, Yuki
dc.contributor.authorKaneko, Takashi
dc.contributor.authorNoguchi, Yasushi
dc.contributor.authorTaneyama, Yuichi
dc.contributor.authorOta, Setsuo
dc.contributor.authorInukai, Takeshi
dc.contributor.authorYanagimachi, Masakatsu
dc.contributor.authorKeino, Dai
dc.contributor.authorKoike, Kazutoshi
dc.contributor.authorToyama, Daisuke
dc.contributor.authorNakazawa, Yozo
dc.contributor.authorKurosawa, Hidemitsu
dc.contributor.authorNakamura, Kozue
dc.contributor.authorMoriwaki, Koichi
dc.contributor.authorGoto, Hiroaki
dc.contributor.authorSekinaka, Yujin
dc.contributor.authorMorita, Daisuke
dc.contributor.authorKato, Motohiro
dc.contributor.authorTakita, Junko
dc.contributor.authorTanaka, Toshihiro
dc.contributor.authorInazawa, Johji
dc.contributor.authorKoh, Katsuyoshi
dc.contributor.authorIshida, Yasushi
dc.contributor.authorOhara, Akira
dc.contributor.authorMizutani, Shuki
dc.contributor.authorMatsuda, Fumihiko
dc.contributor.authorManabe, Atsushi
dc.contributor.alternative川口, 喬久
dc.contributor.alternative松田, 文彦
dc.date.accessioned2019-01-28T06:47:43Z-
dc.date.available2019-01-28T06:47:43Z-
dc.date.issued2018-01-15
dc.identifier.issn2045-2322
dc.identifier.urihttp://hdl.handle.net/2433/236113-
dc.description.abstractGenome-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 0–19 years) previously enrolled onto a Tokyo Children’s Cancer Study Group trial were collected during 2013–2015, 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 previous 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 ARID5B (rs10821936, OR = 1.84, P = 6 × 10⁻¹⁷) and PIP4K2A (rs7088318, OR = 0.76, P = 2 × 10⁻⁴) directly transferred to Japanese, and the IKZF1 association was detected by an alternate SNP (rs1451367, OR = 1.52, P = 2 × 10⁻⁶). Marked regional LD differences between Japanese and Europeans was observed for most of the remaining loci for which associations did not transfer, including CEBPE, CDKN2A, CDKN2B, and ELK3. This study represents a first step towards characterizing the role of genetic susceptibility in childhood ALL risk in Japanese.
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.publisherSpringer Nature
dc.rights© The Author(s) 2018. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.titleRegional evaluation of childhood acute lymphoblastic leukemia genetic susceptibility loci among Japanese
dc.type.niitypeJournal Article
dc.identifier.jtitleScientific Reports
dc.identifier.volume8
dc.relation.doi10.1038/s41598-017-19127-7
dc.textversionpublisher
dc.identifier.artnum789
dc.addressDepartment of Social Medicine, National Center for Child Health and Development, Tokyo・Graduate School of Public Health, St. Luke’s International University
dc.addressDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University
dc.addressCenter for Genomic Medicine, Kyoto University Graduate School of Medicine
dc.addressDivision of Molecular and Clinical Epidemiology, Aichi Cancer Center Research Institute
dc.addressDepartment of Clinical Pharmacy, Center for Clinical Pharmacy and Sciences, School of Pharmacy, Kitasato University
dc.addressDepartment of Social Medicine, National Center for Child Health and Development
dc.addressDepartment of Hematology/Oncology, Saitama Children’s Medical Center
dc.addressDepartment of Pediatrics, St. Luke’s International Hospital
dc.addressDepartment of Hematology/Oncology, Tokyo Metropolitan Children’s Medical Center
dc.addressDepartment of Hematology/Oncology, Tokyo Metropolitan Children’s Medical Center
dc.addressDepartment of Pediatrics, Japanese Red Cross Narita Hospital
dc.addressDepartment of Hematology/Oncology, Chiba Children’s Hospital
dc.addressDepartment of Pediatrics, Teikyo University Chiba Medical Center
dc.addressDepartment of Pediatrics, University of Yamanashi
dc.addressDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University・Department of Pediatrics, Yokohama City University Graduate School of Medicine
dc.addressDepartment of Pediatrics, St. Marianna University School of Medicine
dc.addressDivision of Pediatric Hematology and Oncology, Ibaraki Children’s Hospital
dc.addressDivision of Pediatrics, Showa University Fujigaoka Hospital
dc.addressDepartment of Pediatrics, Shinshu University School of Medicine
dc.addressDepartment of Pediatrics, Dokkyo Medical University
dc.addressDepartment of Pediatrics, Teikyo University Hospital
dc.addressDepartment of Pediatrics, Saitama Medical Center, Saitama Medical University
dc.addressDivision of Hematology/Oncology & Regenerative Medicine, Kanagawa Children’s Medical Center
dc.addressDepartment of Pediatrics, National Defense Medical College
dc.addressDepartment of Pediatrics, Shinshu University School of Medicine
dc.addressChildren’s Cancer Center, National Center for Child Health and Development
dc.addressDepartment of Pediatrics, The University of Tokyo Hospital
dc.addressDepartment of Human Genetics and Disease Diversity, Tokyo Medical Dental University・Bioresource Research Center, Tokyo Medical and Dental University
dc.addressBioresource Research Center, Tokyo Medical and Dental University
dc.addressDepartment of Hematology/Oncology, Saitama Children’s Medical Center
dc.addressPediatric Medical Center, Ehime Prefectural Central Hospital
dc.addressDepartment of Pediatrics, Toho University
dc.addressDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University
dc.addressCenter for Genomic Medicine, Kyoto University Graduate School of Medicine
dc.addressDepartment of Pediatrics, St. Luke’s International Hospital
dc.identifier.pmid29335448
dc.identifier.kaken26253041
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