論文

査読有り
2018年12月1日

Regional evaluation of childhood acute lymphoblastic leukemia genetic susceptibility loci among Japanese

Scientific Reports
  • Kevin Y. Urayama
  • ,
  • Masatoshi Takagi
  • ,
  • Takahisa Kawaguchi
  • ,
  • Keitaro Matsuo
  • ,
  • Yoichi Tanaka
  • ,
  • Yoko Ayukawa
  • ,
  • Yuki Arakawa
  • ,
  • Daisuke Hasegawa
  • ,
  • Yuki Yuza
  • ,
  • Takashi Kaneko
  • ,
  • Yasushi Noguchi
  • ,
  • Yuichi Taneyama
  • ,
  • Setsuo Ota
  • ,
  • Takeshi Inukai
  • ,
  • Masakatsu Yanagimachi
  • ,
  • Dai Keino
  • ,
  • Kazutoshi Koike
  • ,
  • Daisuke Toyama
  • ,
  • Yozo Nakazawa
  • ,
  • Hidemitsu Kurosawa
  • ,
  • Kozue Nakamura
  • ,
  • Koichi Moriwaki
  • ,
  • Hiroaki Goto
  • ,
  • Yujin Sekinaka
  • ,
  • Daisuke Morita
  • ,
  • Motohiro Kato
  • ,
  • Junko Takita
  • ,
  • Toshihiro Tanaka
  • ,
  • Johji Inazawa
  • ,
  • Katsuyoshi Koh
  • ,
  • Yasushi Ishida
  • ,
  • Akira Ohara
  • ,
  • Shuki Mizutani
  • ,
  • Fumihiko Matsuda
  • ,
  • Atsushi Manabe

8
1
開始ページ
789
終了ページ
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/s41598-017-19127-7
出版者・発行元
Nature Publishing Group

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.

リンク情報
DOI
https://doi.org/10.1038/s41598-017-19127-7
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/29335448

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