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  Genetic variants for head size share genes and pathways with cancer

Knol, M. J., Poot, R. A., Evans, T. E., Satizabal, C. L., Mishra, A., Sargurupremraj, M., Van der Auwera, S., Duperron, M.-G., Jian, X., Hostettler, I. C., Van Dam-Nolen, D. H. K., Lamballais, S., Pawlak, M. A., Lewis, C. E., Carrion Castillo, A., Van Erp, T. G. M., Reinbold, C. S., Shin, J., Sholz, M., Håberg, A. K., Kämpe, A., Li, G. H. Y., Avinun, R., Atkins, J. R., Hsu, F.-C., Amod, A. R., Lam, M., Tsuchida, A., Teunissen, M. W. A., Aygün, N., Patel, Y., Liang, D., Beiser, A. S., Beyer, F., Bis, J. C., Bos, D., Bryan, R. N., Bülow, R., Caspers, S., Catheline, G., Cecil, C. A. M., Dalvie, S., Dartigues, J.-F., DeCarli, C., Enlund-Cerullo, M., Ford, J. M., Franke, B., Freedman, B. I., Friedrich, N., Green, M. J., Haworth, S., Helmer, C., Hoffmann, P., Homuth, G., Ikram, M. K., Jack, C. R., Jahanshad, N., Jockwitz, C., Kamatani, Y., Knodt, A. R., Li, S., Lim, K., Longstreth, W. T., Macciardi, F., The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, The Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium, Mäkitie, O., Mazoyer, B., Medland, S. E., Miyamoto, S., Moebus, S., Mosley, T. H., Muetzel, R., Mühleisen, T. W., Nagata, M., Nakahara, S., Palmer, N. D., Pausova, Z., Preda, A., Quidé, Y., Reay, W. R., Roshchupkin, G. V., Schmidt, R., Schreiner, P. J., Setoh, K., Shapland, C. Y., Sidney, S., St Pourcain, B., Stein, J. L., Tabara, Y., Teumer, A., Uhlmann, A., Van de Lught, A., Vernooij, M. W., Werring, D. J., Windham, B. G., Witte, A. V., Wittfeld, K., Yang, Q., Yoshida, K., Brunner, H. G., Le Grand, Q., Sim, K., Stein, D. J., Bowden, D. W., Cairns, M. J., Hariri, A. R., Cheung, C.-L., Andersson, S., Villringer, A., Paus, T., Chichon, S., Calhoun, V. D., Crivello, F., Launer, L. J., White, T., Koudstaal, P. J., Houlden, H., Fornage, M., Matsuda, F., Grabe, H. J., Ikram, M. A., Debette, S., Thompson, P. M., Seshadri, S., & Adams, H. H. H. (2024). Genetic variants for head size share genes and pathways with cancer. Cell Reports Medicine, 5(5):. doi:10.1016/j.xcrm.2024.101529.

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アイテムのパーマリンク: https://hdl.handle.net/21.11116/0000-000F-3BE6-C 版のパーマリンク: https://hdl.handle.net/21.11116/0000-000F-6C20-4
資料種別: 学術論文

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Knol_etal_2024_genetic variants for head size....pdf (出版社版), 4MB
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https://hdl.handle.net/21.11116/0000-000F-3E26-2
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Knol_etal_2024_genetic variants for head size....pdf
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著作権日付:
2024
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© 2024 The Author(s). Published by Elsevier Inc This is an open access article distributed under the terms of the Creative Commons CC-BY license, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. You are not required to obtain permission to reuse this article.
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http://creativecommons.org/licenses/by/4.0/

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作成者

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 作成者:
Knol, Maria J.1, 著者
Poot, Raymond A.1, 著者
Evans, Tavia E.1, 著者
Satizabal, Claudia L.2, 3, 4, 著者
Mishra, Aniket5, 著者
Sargurupremraj, Muralidharan2, 著者
Van der Auwera, Sandra6, 7, 著者
Duperron, Marie-Gabrielle5, 著者
Jian, Xueqiu8, 著者
Hostettler, Isabel C.9, 10, 11, 著者
Van Dam-Nolen, Dianne H. K.1, 著者
Lamballais, Sander1, 著者
Pawlak, Mikolaj A.12, 13, 著者
Lewis, Cora E.14, 著者
Carrion Castillo, Amaia15, 著者           
Van Erp, Theo G. M.16, 著者
Reinbold, Celine S.17, 18, 19, 著者
Shin, Jean20, 著者
Sholz, Markus21, 22, 著者
Håberg, Asta K.23, 24, 著者
Kämpe, Anders25, 26, 著者Li, Gloria H. Y.27, 著者Avinun, Reut28, 著者Atkins, Joshua R.29, 30, 著者Hsu, Fang-Chi31, 著者Amod, Alyssa R.32, 著者Lam, Max33, 34, 著者Tsuchida, Ami5, 著者Teunissen, Mariël W. A.13, 35, 著者Aygün, Nil36, 著者Patel, Yash20, 著者Liang, Dan36, 著者Beiser, Alexa S.3, 4, 著者Beyer, Frauke21, 37, 38, 著者Bis, Joshua C.39, 著者Bos, Daniel1, 著者Bryan, R. Nick40, 著者Bülow, Robin6, 著者Caspers, Svenja41, 42, 著者Catheline, Gwenaëlle 5, 著者Cecil, Charlotte A. M.1, 著者Dalvie, Shareefa32, 著者Dartigues, Jean-Francois5, 著者DeCarli, Charles43, 著者Enlund-Cerullo, Maria44, 著者Ford, Judith M.45, 46, 著者Franke, Barbara13, 47, 著者Freedman, Barry I.31, 著者Friedrich, Nele6, 著者Green, Melissa J.48, 49, 著者Haworth, Simon50, 著者Helmer, Catherine5, 著者Hoffmann, Per17, 18, 51, 著者Homuth, Georg6, 著者Ikram, M. Kamran1, 著者Jack, Clifford R.52, 著者Jahanshad, Neda53, 著者Jockwitz, Christiane41, 54, 著者Kamatani, Yoichiro55, 著者Knodt, Annchen R.28, 著者Li, Shuo4, 著者Lim, Keane33, 著者Longstreth, W. T. 39, 著者Macciardi, Fabio16, 著者The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, 著者              The Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium, 著者              Mäkitie, Outi25, 26, 44, 著者Mazoyer, Bernard5, 著者Medland, Sarah E.56, 57, 著者Miyamoto, Susumu55, 著者Moebus, Susanne58, 著者Mosley, Thomas H.59, 60, 著者Muetzel, Ryan1, 著者Mühleisen, Thomas W.17, 41, 42, 著者Nagata, Manabu55, 著者Nakahara, Soichiro16, 著者Palmer, Nicholette D.31, 著者Pausova, Zdenka20, 著者Preda, Adrian16, 著者Quidé, Yann48, 49, 著者Reay, William R.29, 30, 著者Roshchupkin, Gennady V.1, 著者Schmidt, Reinhold61, 著者Schreiner, Pamela J.62, 著者Setoh, Kazuya55, 著者Shapland, Chin Yang15, 50, 著者           Sidney, Stephen63, 著者St Pourcain, Beate15, 47, 50, 64, 著者           Stein, Jason L.36, 著者Tabara, Yasuharu55, 著者Teumer, Alexander6, 著者Uhlmann, Anne32, 著者Van de Lught, Aad1, 著者Vernooij, Meike W.1, 著者Werring, David J.9, 著者Windham, B. Gwen59, 60, 著者Witte, A. Veronica37, 38, 著者Wittfeld, Katharina6, 7, 著者Yang, Qiong4, 著者Yoshida, Kazumichi55, 著者Brunner, Han G.13, 65, 著者Le Grand, Quentin5, 著者Sim, Kang33, 34, 著者Stein, Dan J.32, 66, 著者Bowden, Donald W.31, 著者Cairns, Murray J.29, 30, 著者Hariri, Ahmad R.28, 著者Cheung, Ching-Lung33, 34, 著者Andersson, Sture44, 著者Villringer, Arno37, 38, 著者Paus, Tomas67, 68, 著者Chichon, Sven17, 18, 41, 著者Calhoun, Vince D.69, 著者Crivello, Fabrice5, 著者Launer, Lenore J.70, 著者White, Tonya1, 著者Koudstaal, Peter J.1, 著者Houlden, Henry9, 著者Fornage, Myriam8, 著者Matsuda, Fumihiko55, 著者Grabe, Hans J.6, 著者Ikram, M. Arfan1, 著者Debette, Stephanie5, 著者Thompson, Paul M.53, 著者Seshadri, Sudha2, 3, 4, 著者Adams, Hieab H. H.13, 著者 全て表示
所属:
1Erasmus MC, Rotterdam, The Netherlands, ou_persistent22              
2The University of Texas Health Science Center at San Antonio, San Antonio, TX, USA, ou_persistent22              
3The Framingham Heart Study, Framingham, MA, USA, ou_persistent22              
4Boston University School of Medicine, Boston, MA, USA, ou_persistent22              
5University of Bordeaux, Bordeaux, France, ou_persistent22              
6University Medicine Greifswald, Greifswald, Germany, ou_persistent22              
7German Centre of Neurodegenerative Diseases (DZNE), Greifswald, Germany, ou_persistent22              
8University of Texas Health Science Center at Houston, Houston, TX, USA, ou_persistent22              
9University College London, London, UK, ou_persistent22              
10University of Munich, Munich, Germany, ou_persistent22              
11Cantonal Hospital St. Gallen, St. Gallen, Switzerland, ou_persistent22              
12Poznań University of Medical Sciences, Poznań, Poland, ou_persistent22              
13Radboud University Medical Center, Nijmegen, The Netherlands, ou_persistent22              
14University of Alabama at Birmingham School of Medicine, Birmingham, AL, USA, ou_persistent22              
15Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society, Nijmegen, NL, ou_792549              
16University of California, Irvine, Irvine, CA, USA, ou_persistent22              
17University of Basel, Basel, Switzerland, ou_persistent22              
18University Hospital Basel, Basel, Switzerland, ou_persistent22              
19Zurich University of Applied Sciences, Wädenswil, Switzerland, ou_persistent22              
20University of Toronto, Toronto, Canada, ou_persistent22              
21University of Leipzig, Leipzig, Germany, ou_persistent22              
22LIFE Research Center for Civilization Disease, Leipzig, Germany, ou_persistent22              
23Norwegian University of Science and Technology (NTNU), Trondheim, Trondheim, Norway, ou_persistent22              
24St. Olavs University Hospital, Trondheim, Norway, ou_persistent22              
25Karolinska Institutet, Stockholm, Sweden, ou_persistent22              
26Karolinska University Hospital, Stockholm, Sweden, ou_persistent22              
27The University of Hong Kong, Hong Kong, China, ou_persistent22              
28Duke University, Durham, Durham, NC, USA, ou_persistent22              
29The University of Newcastle, Callaghan, Australia, ou_persistent22              
30Hunter Medical Research Institute, Newcastle, Australia, ou_persistent22              
31Wake Forest University School of Medicine, Winston-Salem, NC, USA, ou_persistent22              
32TU Dresden, Dresden, Germany, ou_persistent22              
33Institute of Mental Health, Singapore, Singapore, Singapore, ou_persistent22              
34Nanyang Technological University, Singapore, Singapore, ou_persistent22              
35Maastricht University Medical Center, Maastricht, The Netherlands, ou_persistent22              
36University of North Carolina at Chapel Hill, Chapel Hill, NC, USA, ou_persistent22              
37Max Planck Institute for Cognitive and Brain Sciences, Leipzig, Germany, ou_persistent22              
38University Hospital Leipzig, Leipzig, Germany, ou_persistent22              
39University of Washington, Seattle, Seattle, WA, USA, ou_persistent22              
40University of Pennsylvania, Philadelphia, PA, USA, ou_persistent22              
41Research Centre Jülich, Jülich, Germany, ou_persistent22              
42Heinrich Heine University Düsseldorf, Düsseldorf, Germany, ou_persistent22              
43University of California at Davis, Sacramento, CA, USA, ou_persistent22              
44University of Helsinki , Helsinki, Finland, ou_persistent22              
45San Francisco Veterans Administration Medical Center, San Francisco, CA, USA, ou_persistent22              
46University of California, San Francisco, CA, USA, ou_persistent22              
47Donders Institute for Brain, Cognition and Behaviour, External Organizations, ou_55236              
48University of New South Wales, Sydney, Australia, ou_persistent22              
49Neuroscience Research Australia, Sydney, Australia, ou_persistent22              
50University of Bristol, Bristol, UK, ou_persistent22              
51University of Bonn Medical School, Bonn, Germany, ou_persistent22              
52Mayo Clinic, Rochester, Rochester, MN, USA, ou_persistent22              
53Keck USC School of Medicine, Los Angeles, CA, USA, ou_persistent22              
54Aachen University, Aachen, Germany, ou_persistent22              
55Kyoto University Graduate School of Medicine, Kyoto, Japan, ou_persistent22              
56QIMR Berghofer Medical Research Institute, Brisbane, Australia, ou_persistent22              
57University of Queensland, Brisbane, Australia, ou_persistent22              
58University of Duisburg-Essen, Essen, Germany, ou_persistent22              
59University of Mississippi Medical Center, Jackson, MS, USA, ou_persistent22              
60Memory Impairment and Neurodegenerative Dementia (MIND) Center, Jackson, MS, USA, ou_persistent22              
61Medical University of Graz, Graz, Austria, ou_persistent22              
62University of Minnesota School of Public Health, Minneapolis, MN, USA, ou_persistent22              
63Kaiser Permanente Division of Research, Oakland, CA, USA, ou_persistent22              
64Population genetics of human communication, MPI for Psycholinguistics, Max Planck Society, ou_2579694              
65Maastricht University, Maastricht, The Netherlands, ou_persistent22              
66University of Cape Town, Cape Town, South Africa, ou_persistent22              
67University of Montreal, Montreal, Canada, ou_persistent22              
68McGill University, Montreal, Canada, ou_persistent22              
69Georgia Tech, Atlanta, GA, USA, ou_persistent22              
70The National Institutes of Health, Bethesda, MD, USA, ou_persistent22              

内容説明

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キーワード: -
 要旨: The size of the human head is highly heritable, but genetic drivers of its variation within the general population remain unmapped. We perform a genome-wide association study on head size (N = 80,890) and identify 67 genetic loci, of which 50 are novel. Neuroimaging studies show that 17 variants affect specific brain areas, but most have widespread effects. Gene set enrichment is observed for various cancers and the p53, Wnt, and ErbB signaling pathways. Genes harboring lead variants are enriched for macrocephaly syndrome genes (37-fold) and high-fidelity cancer genes (9-fold), which is not seen for human height variants. Head size variants are also near genes preferentially expressed in intermediate progenitor cells, neural cells linked to evolutionary brain expansion. Our results indicate that genes regulating early brain and cranial growth incline to neoplasia later in life, irrespective of height. This warrants investigation of clinical implications of the link between head size and cancer.

資料詳細

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言語: eng - English
 日付: 20242024-05-03
 出版の状態: オンラインで出版済み
 ページ: -
 出版情報: -
 目次: -
 査読: 査読あり
 識別子（DOI, ISBNなど）: DOI: 10.1016/j.xcrm.2024.101529
 学位: -

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出版物 1

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出版物名: Cell Reports Medicine
  省略形 : CELL REP MED
種別: 学術雑誌
 著者・編者:
所属:
出版社, 出版地: -
ページ: - 巻号: 5 (5) 通巻号: 101529 開始・終了ページ: - 識別子（ISBN, ISSN, DOIなど）: CoNE: https://pure.mpg.de/cone/journals/resource/2666-3791