Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
By
Simon Haworth,
Chin Yang Shapland,
Caroline Hayward,
Bram P. Prins,
Janine F. Felix,
Carolina Medina-Gomez,
Fernando Rivadeneira,
Carol Wang,
Tarunveer S. Ahluwalia,
Martine Vrijheid,
Mònic Guxens,
Jordi Sunyer,
Ioanna Tachmazidou,
Klaudia Walter,
Valentina Iotchkova,
Andrew Jackson,
Louise Cleal,
Jennifer Huffmann,
Josine L. Min,
Lærke Sass,
Paul R. H. J. Timmers,
UK10K consortium,
George Davey Smith,
SE Fisher,
James F. Wilson,
Tim J. Cole,
Dietmar Fernandez-Orth,
Klaus Bønnelykke,
Hans Bisgaard,
Craig E. Pennell,
Vincent W. V. Jaddoe,
George V. Dedoussis,
Nicholas Timpson,
Eleftheria Zeggini,
Veronique Vitart,
Beate Pourcain
Posted 18 Jun 2018
bioRxiv DOI: 10.1101/349845
(published DOI: 10.1038/s41467-018-07863-x)
Cranial growth and development affects the closely related traits of head circumference (HC) and intracranial volume (ICV). 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.
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