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ID 114954
著者
Low, Siew-Kee Japanese Foundation for Cancer Research|RIKEN Center for Integrative Medical Sciences
Chin, Yoon Ming Japanese Foundation for Cancer Research
Ito, Hidemi Aichi Cancer Center Research Institute|Nagoya University
Matsuo, Keitaro Aichi Cancer Center Research Institute|Nagoya University
Tanikawa, Chizu The University of Tokyo
Matsuda, Koichi The University of Tokyo
Saito, Hiroko The Cancer Institute of JFCR
Sakurai-Yageta, Mika Tohoku University
Nakaya, Naoki Tohoku University
Shimizu, Atsushi Iwate Medical University
Nishizuka, Satoshi S. Iwate Medical University
Yamaji, Taiki National Cancer Center
Sawada, Norie National Cancer Center
Iwasaki, Motoki National Cancer Center
Tsugane, Shoichiro National Cancer Center
Takezaki, Toshiro Kagoshima University
Suzuki, Sadao Nagoya City University
Naito, Mariko Nagoya University|Hiroshima University
Wakai, Kenji Nagoya University
Kamatani, Yoichiro RIKEN Center for Integrative Medical Sciences
Momozawa, Yukihide RIKEN Center for Integrative Medical Sciences
Murakami, Yoshinori The University of Tokyo
Inazawa, Johji Tokyo Medical & Dental University
Nakamura, Yusuke Japanese Foundation for Cancer Research
Kubo, Michiaki RIKEN Center for Integrative Medical Sciences
Miki, Yoshio The Cancer Institute of JFCR|Tokyo Medical & Dental University
資料タイプ
学術雑誌論文
抄録
Genome-wide association studies (GWAS) have successfully identified about 70 genomic loci associated with breast cancer. Owing to the complexity of linkage disequilibrium and environmental exposures in different populations, it is essential to perform regional GWAS for better risk prediction. This study aimed to investigate the genetic architecture and to assess common genetic risk model of breast cancer with 6,669 breast cancer patients and 21,930 female controls in the Japanese population. This GWAS identified 11 genomic loci that surpass genome-wide significance threshold of P < 5.0 × 10−8 with nine previously reported loci and two novel loci that include rs9862599 on 3q13.11 (ALCAM) and rs75286142 on 21q22.12 (CLIC6-RUNX1). Validation study was carried out with 981 breast cancer cases and 1,394 controls from the Aichi Cancer Center. Pathway analyses of GWAS signals identified association of dopamine receptor medicated signaling and protein amino acid deacetylation with breast cancer. Weighted genetic risk score showed that individuals who were categorized in the highest risk group are approximately 3.7 times more likely to develop breast cancer compared to individuals in the lowest risk group. This well-powered GWAS is a representative study to identify SNPs that are associated with breast cancer in the Japanese population.
掲載誌名
Scientific Reports
ISSN
20452322
出版者
Springer Nature
9
開始ページ
17332
発行日
2019-11-22
権利情報
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/.
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出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
先端酵素学研究所