التفاصيل البيبلوغرافية
| العنوان: |
Genetic variants for head size share genes and pathways with cancer |
| المؤلفون: |
Knol, MJ, Poot, RA, Evans, TE, Satizabal, CL, Mishra, A, Sargurupremraj, M, van der Auwera, S, Duperron, MG, Jian, X, Hostettler, IC, van Dam-Nolen, DHK, Lamballais, S, Pawlak, MA, Lewis, CE, Carrion-Castillo, A, van Erp, TGM, Reinbold, CS, Shin, J, Scholz, M, Håberg, AK, Kämpe, A, Li, GHY, Avinun, R, Atkins, JR, Hsu, FC, Amod, AR, Lam, M, Tsuchida, A, Teunissen, MWA, Aygün, N, Patel, Y, Liang, D, Beiser, AS, Beyer, F, Bis, JC, Bos, D, Bryan, RN, Bülow, R, Caspers, S, Catheline, G, Cecil, CAM, Dalvie, S, Dartigues, JF, DeCarli, C, Enlund-Cerullo, M, Ford, JM, Franke, B, Freedman, BI, Friedrich, N, Green, MJ, Haworth, S, Helmer, C, Hoffmann, P, Homuth, G, Ikram, MK, Jack, CR, Jahanshad, N, Jockwitz, C, Kamatani, Y, Knodt, AR, Li, S, Lim, K, Longstreth, WT, Macciardi, F, Amouyel, P, Arfanakis, K, Aribisala, BS, Bastin, ME, Chauhan, G, Chen, C, Cheng, CY, de Jager, PL, Deary, IJ, Fleischman, DA, Gottesman, RF, Gudnason, V, Hilal, S, Hofer, E, Janowitz, D, Jukema, JW, Liewald, DCM, Lopez, LM, Lopez, O, Luciano, M, Martinez, O, Niessen, WJ, Nyquist, P, Rotter, JI, Rundek, T, Sacco, RL, Schmidt, H, Tiemeier, H, Trompet, S, van der Grond, J, Völzke, H, Wardlaw, JM, Yanek, L, Yang, J, Agartz, I, Alhusaini, S, Quide, Yann, Reppermund, Simone, Carr, Vaughan, Brodaty, Henry |
| المصدر: |
urn:ISSN:2666-3791 ; Cell Reports Medicine, 5, 5, 101529 |
| بيانات النشر: |
Elsevier |
| سنة النشر: |
2024 |
| المجموعة: |
UNSW Sydney (The University of New South Wales): UNSWorks |
| مصطلحات موضوعية: |
Human Genome, Biotechnology, Stem Cell Research, Genetics, Neurosciences, Cancer, 2 Aetiology, 2.1 Biological and endogenous factors, Neurological, Humans, Genome-Wide Association Study, Head, Neoplasms, Female, Male, Polymorphism, Single Nucleotide, Genetic Variation, Organ Size, Signal Transduction, Adult, Genetic Predisposition to Disease, head circumference, head size, intracranial volume, meta-analysis, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium |
| الوصف: |
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. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
unknown |
| العلاقة: |
http://hdl.handle.net/1959.4/102366Test; https://unsworks.unsw.edu.au/bitstreams/5b200405-88af-43d4-ad77-8975b76f5105/downloadTest; https://doi.org/10.1016/j.xcrm.2024.101529Test |
| DOI: |
10.1016/j.xcrm.2024.101529 |
| الإتاحة: |
https://doi.org/10.1016/j.xcrm.2024.101529Test
http://hdl.handle.net/1959.4/102366Test
https://unsworks.unsw.edu.au/bitstreams/5b200405-88af-43d4-ad77-8975b76f5105/downloadTest |
| حقوق: |
open access ; https://purl.org/coar/access_right/c_abf2Test ; CC-BY ; https://creativecommons.org/licenses/by/4.0Test/ ; CC BY ; free_to_read |
| رقم الانضمام: |
edsbas.954534C2 |
| قاعدة البيانات: |
BASE |
