Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 62,502 bioRxiv papers from 277,505 authors.
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
Chin Yang Shapland,
Bram P. Prins,
Janine F. Felix,
Tarunveer S. Ahluwalia,
Josine L. Min,
Paul R. H. J. Timmers,
George Davey Smith,
Simon E. Fisher,
James F Wilson,
Tim J. Cole,
Craig E. Pennell,
Vincent W. V. Jaddoe,
Beate St Pourcain
Posted 18 Jun 2018
bioRxiv DOI: 10.1101/349845 (published DOI: 10.1038/s41467-018-07863-x)
Posted 18 Jun 2018
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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