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Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population
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 s...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874604/ https://www.ncbi.nlm.nih.gov/pubmed/31757997 http://dx.doi.org/10.1038/s41598-019-53654-9 |
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| author | Low, Siew-Kee Chin, Yoon Ming Ito, Hidemi Matsuo, Keitaro Tanikawa, Chizu Matsuda, Koichi Saito, Hiroko Sakurai-Yageta, Mika Nakaya, Naoki Shimizu, Atsushi Nishizuka, Satoshi S. Yamaji, Taiki Sawada, Norie Iwasaki, Motoki Tsugane, Shoichiro Takezaki, Toshiro Suzuki, Sadao Naito, Mariko Wakai, Kenji Kamatani, Yoichiro Momozawa, Yukihide Murakami, Yoshinori Inazawa, Johji Nakamura, Yusuke Kubo, Michiaki Katagiri, Toyomasa Miki, Yoshio |
| author_facet | Low, Siew-Kee Chin, Yoon Ming Ito, Hidemi Matsuo, Keitaro Tanikawa, Chizu Matsuda, Koichi Saito, Hiroko Sakurai-Yageta, Mika Nakaya, Naoki Shimizu, Atsushi Nishizuka, Satoshi S. Yamaji, Taiki Sawada, Norie Iwasaki, Motoki Tsugane, Shoichiro Takezaki, Toshiro Suzuki, Sadao Naito, Mariko Wakai, Kenji Kamatani, Yoichiro Momozawa, Yukihide Murakami, Yoshinori Inazawa, Johji Nakamura, Yusuke Kubo, Michiaki Katagiri, Toyomasa Miki, Yoshio |
| author_sort | Low, Siew-Kee |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-6874604 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-68746042019-12-04 Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population Low, Siew-Kee Chin, Yoon Ming Ito, Hidemi Matsuo, Keitaro Tanikawa, Chizu Matsuda, Koichi Saito, Hiroko Sakurai-Yageta, Mika Nakaya, Naoki Shimizu, Atsushi Nishizuka, Satoshi S. Yamaji, Taiki Sawada, Norie Iwasaki, Motoki Tsugane, Shoichiro Takezaki, Toshiro Suzuki, Sadao Naito, Mariko Wakai, Kenji Kamatani, Yoichiro Momozawa, Yukihide Murakami, Yoshinori Inazawa, Johji Nakamura, Yusuke Kubo, Michiaki Katagiri, Toyomasa Miki, Yoshio Sci Rep Article 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. Nature Publishing Group UK 2019-11-22 /pmc/articles/PMC6874604/ /pubmed/31757997 http://dx.doi.org/10.1038/s41598-019-53654-9 Text en © The Author(s) 2019 Open Access 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/. |
| spellingShingle | Article Low, Siew-Kee Chin, Yoon Ming Ito, Hidemi Matsuo, Keitaro Tanikawa, Chizu Matsuda, Koichi Saito, Hiroko Sakurai-Yageta, Mika Nakaya, Naoki Shimizu, Atsushi Nishizuka, Satoshi S. Yamaji, Taiki Sawada, Norie Iwasaki, Motoki Tsugane, Shoichiro Takezaki, Toshiro Suzuki, Sadao Naito, Mariko Wakai, Kenji Kamatani, Yoichiro Momozawa, Yukihide Murakami, Yoshinori Inazawa, Johji Nakamura, Yusuke Kubo, Michiaki Katagiri, Toyomasa Miki, Yoshio Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population |
| title | Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population |
| title_full | Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population |
| title_fullStr | Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population |
| title_full_unstemmed | Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population |
| title_short | Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population |
| title_sort | identification of two novel breast cancer loci through large-scale genome-wide association study in the japanese population |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874604/ https://www.ncbi.nlm.nih.gov/pubmed/31757997 http://dx.doi.org/10.1038/s41598-019-53654-9 |
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