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Title: Regional evaluation of childhood acute lymphoblastic leukemia genetic susceptibility loci among Japanese
Authors: Urayama, Kevin Y.
Takagi, Masatoshi
Kawaguchi, Takahisa
Matsuo, Keitaro
Tanaka, Yoichi
Ayukawa, Yoko
Arakawa, Yuki
Hasegawa, Daisuke
Yuza, Yuki
Kaneko, Takashi
Noguchi, Yasushi
Taneyama, Yuichi
Ota, Setsuo
Inukai, Takeshi
Yanagimachi, Masakatsu
Keino, Dai
Koike, Kazutoshi
Toyama, Daisuke
Nakazawa, Yozo
Kurosawa, Hidemitsu
Nakamura, Kozue
Moriwaki, Koichi
Goto, Hiroaki
Sekinaka, Yujin
Morita, Daisuke
Kato, Motohiro
Takita, Junko  kyouindb  KAKEN_id  orcid (unconfirmed)
Tanaka, Toshihiro
Inazawa, Johji
Koh, Katsuyoshi
Ishida, Yasushi
Ohara, Akira
Mizutani, Shuki
Matsuda, Fumihiko
Manabe, Atsushi
Author's alias: 川口, 喬久
松田, 文彦
Issue Date: 15-Jan-2018
Publisher: Springer Nature
Journal title: Scientific Reports
Volume: 8
Thesis number: 789
Abstract: 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 0–19 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.
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
DOI(Published Version): 10.1038/s41598-017-19127-7
PubMed ID: 29335448
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