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Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes

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posted on 2025-08-01, 14:39 authored by S Vogelezang, JP Bradfield, S Johansson, E Stergiakouli, E Thiering, CE Pennell, TS Ahluwalia, V Karhunen, M Scholz, X Liu, C Iñiguez, OT Raitakari, J Bacelis, TM Schnurr, TA Lakka, I Ntalla, MV Lind, L Lauritzen, S Herrala, FTJ Lin, C Frithioff-Bøjsøe, RN Beaumont, MH Zafarmand, P Rzehak, JR Bilbao, N Junna, JM Vonk, SL Rifas-Shiman, VD Janjanam, MJ Knol, S Ramdas, L Beilin, K Bønnelykke, M Casas, JG Eriksson, J Escribano, TE Evans, U Gehring, F Geller, V Grote, D Gruszfeld, H Hakonarson, AT Hattersley, CT Have, M Geoffrey Hayes, J Heinrich, Ø Helgeland, J Holloway, R Joro, J Juodakis, BA Knight, B Koletzko, A Körner, J-P Langhendries, JT Leinonen, V Lindi, MAV Lund, S Lye, M Melbye, KF Michaelsen, CS Morgen, H Niinikoski, K Pahkala, K Panoutsopoulou, O Pedersen, F Rivadeneira, L Santa-Marina, BDC Schaik, D Scholtens, S Sebert, I Tamayo, NJ Timpson, M Torrent, AG Uitterlinden, M Vaudel, E Verduci, R Vinding, M Vogel, E Zeggini, C Brown, HHH Adams, W Karmaus, M-F Hivert, GH Koppelman, E Widén, N Fernandez-Jimenez, M Waldenberger, TGM Vrijkotte, RM Freathy, J-C Holm, WL Lowe, N Grarup, T Hansen, GV Dedoussis, M Atalay, EA Nohr, B Jacobsson, N Pitkänen, M Vrijheid, B Feenstra, W Kiess, M-R Jarvelin, H Bisgaard, C Wang C, M Standl, MI McCarthy, BS Pourcain, PR Njølstad, SFA Grant, JF Felix, VWV Jaddoe
Abstract Background: Head circumference is associated with intelligence and tracks from childhood into adulthood. Methods: We performed a genome-wide association study meta-analysis and follow-up of head circumference in a total of 29,192 participants between 6 and 30 months of age. Results: Seven loci reached genome-wide signifcance in the combined discovery and replication analysis of which three loci near ARFGEF2, MYCL1, and TOP1, were novel. We observed positive genetic correlations for early-life head circumference with adult intracranial volume, years of schooling, childhood and adult intelligence, but not with adult psychiatric, neurological, or personality-related phenotypes. Conclusions: The results of this study indicate that the biological processes underlying early-life head circumference overlap largely with those of adult head circumference. The associations of early-life head circumference with cognitive outcomes across the life course are partly explained by genetics.

Funding

098051

102215/2/13/2

202802/Z/16/Z

514787

MRC & WT

Max Planck core society

Simons Foundation

University of Southern Denmark

Wellcome Trust

History

Related Materials

  1. 1.
    EISSN - Is published in https://portal.issn.org/resource/ISSN/1755-8794
  2. 2.
    URL - References https://egg-consortium.org/

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© The Author(s) 2022. 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativeco mmons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data

Notes

This is the final version. Available from BMC via the DOI in this record. Availability of data and materials GWAS summary data will be deposited at the EGG website (https://egg-consortium.org/) at publication. Individual study data are available from the corresponding author on reasonable request.

External DOI

Journal

BMC Medical Genomics

Publisher

BMC

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  • Version of Record

Language

en

FCD date

2022-06-08T10:55:37Z

FOA date

2022-06-08T11:02:40Z

Citation

Vol. 15, article 124

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    Keywords

    Head circumferenceGenome-wide association studyGenetic correlationsInfancy

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