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Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

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dc.contributor.author Haworth, S.
dc.contributor.author Vrijheid, Martine
dc.contributor.author Guxens Junyent, Mònica
dc.contributor.author Sunyer Deu, Jordi
dc.contributor.author St. Pourcain, Beate
dc.date.accessioned 2019-06-17T07:30:07Z
dc.date.available 2019-06-17T07:30:07Z
dc.date.issued 2019
dc.identifier.citation Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C. et al. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nat Commun. 2019 Jan 21;10(1):357. DOI: 10.1038/s41467-018-07863-x
dc.identifier.issn 2041-1723
dc.identifier.uri http://hdl.handle.net/10230/41765
dc.description.abstract Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the transition from childhood to adulthood are little understood, but might include both age-specific genetic factors and low-frequency genetic variation. Here, we model the developmental genetic architecture of HC, showing this is genetically stable and correlated with genetic determinants of ICV. Investigating up to 46,000 children and adults of European descent, we identify association with final HC and/or final ICV + HC at 9 novel common and low-frequency loci, illustrating that genetic variation from a wide allele frequency spectrum contributes to cranial growth. The largest effects are reported for low-frequency variants within TP53, with 0.5 cm wider heads in increaser-allele carriers versus non-carriers during mid-childhood, suggesting a previously unrecognized role of TP53 transcripts in human cranial development.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Nature Research
dc.rights 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/.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.subject.other Genoma humà
dc.subject.other Marcadors bioquímics
dc.title Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1038/s41467-018-07863-x
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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