モリワキ　コウイチ   MORIWAKI Koichi   森脇　浩一    所属   埼玉医科大学  医学部 総合医療センター　小児科（小児科､総合周産期母子医療センター新生児科、小児救命救急センター）    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	Rare TCF3 variants associated with pediatric B cell acute lymphoblastic leukemia
掲載誌名	正式名：Pediatric Hematology and Oncology ISSNコード：1521-0669
掲載区分	国外
出版社	Taylor & Francis
巻・号・頁	1-7頁
総ページ数	7
著者・共著者	Satoshi Miyamoto, Kevin Y Urayama, Yuki Arakawa, Katsuyoshi Koh, Yuki Yuza, Daisuke Hasegawa, Yuichi Taneyama, Yasushi Noguchi, Masakatsu Yanagimachi, Takeshi Inukai, Setsuo Ota, Hiroyuki Takahashi, Dai Keino, Daisuke Toyama, Junko Takita, Daisuke Tomizawa, Tomohiro Morio, Kazutoshi Koike, Koichi Moriwaki, Yuya Sato, Junya Fujimura, Daisuke Morita, Yujin Sekinaka, Kozue Nakamura, Kazuo Sakashita, Hiroaki Goto, Atsushi Manabe, ◎Masatoshi Takagi
発行年月	2023/05/02
概要	Genome-wide association studies (GWAS) have identified several pediatric B-ALL susceptibility loci. We hypothesized that rare variants of genes involved in B cell development would be candidate susceptibility loci for pediatric B-ALL, and sequenced TCF3, a key transcription factor gene involving in B cell development. TCF3 gene-based analysis revealed significant associations between rare deleterious variants and pediatric B-ALL development. In addition, TCF3 variant-based analysis showed particularly strong association between variant rs372168347 (three in 521 TCCSG and three in the 15780 gnomAD whole genome analysis cohort, p = 0.0006) and pediatric B-ALL development. TCF3 variants are known to influence B cell maturation and may increase the risk of preleukemic clone emergence.