'Genetic variants for head size share genes and pathways with cancer

Knol, Maria J.; Poot, Raymond A.; Evans, Tavia E.; Satizabal, Claudia L.; Mishra, Aniket; Sargurupremraj, Muralidharan; Van der Auwera, Sandra; Duperron, Marie-Gabrielle; Jian, Xueqiu; Hostettler, Isabel C.; Van Dam-Nolen, Dianne H. K.; Lamballais, Sander; Pawlak, Mikolaj A.; Lewis, Cora E.; Carrion Castillo, Amaia; Van Erp, Theo G. M.; Reinbold, Celine S.; Shin, Jean; Sholz, Markus; Håberg, Asta K.; Kämpe, Anders; Li, Gloria H. Y.; Atkins, Joshua R.; Hsu, Fang-Chi; Amod, Alyssa R.; Lam, Max; Tsuchida, Ami; Teunissen, Mariël W. A.; Aygün, Nil; Patel, Yash; Liang, Dan; Beiser, Alexa S.; Beyer, Frauke; Bis, Joshua C.; Bos, Daniel; Bryan, R. Nick; Bülow, Robin; Caspers, Svenja; Catheline, Gwenaëlle; Cecil, Charlotte A. M.; Dalvie, Shareefa; Freedman, Barry I.; Friedrich, Nele; Green, Melissa J.; Haworth, Simon; Helmer, Catherine; Hoffmann, Per; Homuth, Georg; Ikram, M. Kamran; Jack, Clifford R.; Jahanshad, Neda; Jockwitz, Christiane; Kamatani, Yoichiro; Knodt, Annchen R.; Li, Shuo; Lim, Keane; Longstreth, W. T.; Macciardi, Fabio; The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; The Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium; Mäkitie, Outi; Mazoyer, Bernard; Medland, Sarah E.; Miyamoto, Susumu; Moebus, Susanne; Mosley, Thomas H.; Muetzel, Ryan; Mühleisen, Thomas W.; Nagata, Manabu; Nakahara, Soichiro; Palmer, Nicholette D.; Pausova, Zdenka; Preda, Adrian; Quidé, Yann; Reay, William R.; Roshchupkin, Gennady V.; Schmidt, Reinhold; Schreiner, Pamela J.; Setoh, Kazuya; Shapland, Chin Yang; Sidney, Stephen; St Pourcain, Beate; Stein, Jason L.; Tabara, Yasuharu; Teumer, Alexander; Uhlmann, Anne; Van de Lught, Aad; Vernooij, Meike W.; Werring, David J.; Windham, B. Gwen; Witte, A. Veronica; Wittfeld, Katharina; Yang, Qiong; Yoshida, Kazumichi; Brunner, Han G.; Le Grand, Quentin; Sim, Kang; Stein, Dan J.; Bowden, Donald W.; Cairns, Murray J.; Hariri, Ahmad R.; Cheung, Ching-Lung; Andersson, Sture; Villringer, Arno; Paus, Tomas; Chichon, Sven; Calhoun, Vince D.; Crivello, Fabrice; Launer, Lenore J.; White, Tonya; Koudstaal, Peter J.; Houlden, Henry; Fornage, Myriam; Matsuda, Fumihiko; Grabe, Hans J.; Ikram, M. Arfan; Debette, Stephanie; Thompson, Paul M.; Seshadri, Sudha; Adams, Hieab H. H.

doi:10.1016/j.xcrm.2024.101529

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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., et al. (2024). 'Genetic variants for head size share genes and pathways with cancer. Cell Reports Medicine. Advance online publication. doi:10.1016/j.xcrm.2024.101529.

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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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Knol, Maria J., Author
Poot, Raymond A., Author
Evans, Tavia E., Author
Satizabal, Claudia L., Author
Mishra, Aniket, Author
Sargurupremraj, Muralidharan, Author
Van der Auwera, Sandra, Author
Duperron, Marie-Gabrielle, Author
Jian, Xueqiu, Author
Hostettler, Isabel C., Author
Van Dam-Nolen, Dianne H. K., Author
Lamballais, Sander, Author
Pawlak, Mikolaj A., Author
Lewis, Cora E., Author
Carrion Castillo, Amaia¹, Author
Van Erp, Theo G. M., Author
Reinbold, Celine S., Author
Shin, Jean, Author
Sholz, Markus, Author
Håberg, Asta K., Author
Kämpe, Anders, AuthorLi, Gloria H. Y., AuthorAtkins, Joshua R., AuthorHsu, Fang-Chi, AuthorAmod, Alyssa R., AuthorLam, Max, AuthorTsuchida, Ami, AuthorTeunissen, Mariël W. A., AuthorAygün, Nil, AuthorPatel, Yash, AuthorLiang, Dan, AuthorBeiser, Alexa S., AuthorBeyer, Frauke, AuthorBis, Joshua C., AuthorBos, Daniel, AuthorBryan, R. Nick, AuthorBülow, Robin, AuthorCaspers, Svenja, AuthorCatheline, Gwenaëlle , AuthorCecil, Charlotte A. M., AuthorDalvie, Shareefa, AuthorFreedman, Barry I., AuthorFriedrich, Nele, AuthorGreen, Melissa J., AuthorHaworth, Simon, AuthorHelmer, Catherine, AuthorHoffmann, Per, AuthorHomuth, Georg, AuthorIkram, M. Kamran, AuthorJack, Clifford R., AuthorJahanshad, Neda, AuthorJockwitz, Christiane, AuthorKamatani, Yoichiro, AuthorKnodt, Annchen R., AuthorLi, Shuo, AuthorLim, Keane, AuthorLongstreth, W. T. , AuthorMacciardi, Fabio, AuthorThe Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, Author The Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium, Author Mäkitie, Outi, AuthorMazoyer, Bernard, AuthorMedland, Sarah E., AuthorMiyamoto, Susumu, AuthorMoebus, Susanne, AuthorMosley, Thomas H., AuthorMuetzel, Ryan, AuthorMühleisen, Thomas W., AuthorNagata, Manabu, AuthorNakahara, Soichiro, AuthorPalmer, Nicholette D., AuthorPausova, Zdenka, AuthorPreda, Adrian, AuthorQuidé, Yann, AuthorReay, William R., AuthorRoshchupkin, Gennady V., AuthorSchmidt, Reinhold, AuthorSchreiner, Pamela J., AuthorSetoh, Kazuya, AuthorShapland, Chin Yang, Author Sidney, Stephen, AuthorSt Pourcain, Beate^{1, 2}, Author Stein, Jason L., AuthorTabara, Yasuharu, AuthorTeumer, Alexander, AuthorUhlmann, Anne, AuthorVan de Lught, Aad, AuthorVernooij, Meike W., AuthorWerring, David J., AuthorWindham, B. Gwen, AuthorWitte, A. Veronica, AuthorWittfeld, Katharina, AuthorYang, Qiong, AuthorYoshida, Kazumichi, AuthorBrunner, Han G., AuthorLe Grand, Quentin, AuthorSim, Kang, AuthorStein, Dan J., AuthorBowden, Donald W., AuthorCairns, Murray J., AuthorHariri, Ahmad R., AuthorCheung, Ching-Lung, AuthorAndersson, Sture, AuthorVillringer, Arno, AuthorPaus, Tomas, AuthorChichon, Sven, AuthorCalhoun, Vince D., AuthorCrivello, Fabrice, AuthorLauner, Lenore J., AuthorWhite, Tonya, AuthorKoudstaal, Peter J., AuthorHoulden, Henry, AuthorFornage, Myriam, AuthorMatsuda, Fumihiko, AuthorGrabe, Hans J., AuthorIkram, M. Arfan, AuthorDebette, Stephanie, AuthorThompson, Paul M., AuthorSeshadri, Sudha, AuthorAdams, Hieab H. H., Author more..

Affiliations:
1Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society, Nijmegen, NL, ou_792549
2Population genetics of human communication, MPI for Psycholinguistics, Max Planck Society, ou_2579694

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Abstract: 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.

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Language(s): eng - English

Dates: Accepted: 2024Published Online: 2024-05-03

Publication Status: Published online

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Rev. Type: Peer

Identifiers: DOI: 10.1016/j.xcrm.2024.101529

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Title: Cell Reports Medicine. Advance online publication

Abbreviation : CELL REP MED

Source Genre: Journal

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Pages: - Volume / Issue: - Sequence Number: - Start / End Page: - Identifier: CoNE: https://pure.mpg.de/cone/journals/resource/2666-3791