Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Author Correction: Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Functional hypoxia drives neuroplasticity and neurogenesis via brain erythropoietin

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Combined burden and functional impact tests for cancer driver discovery using DriverPower

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Distinct immune phenotypes in infants developing asthma during childhood

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Prenatal dietary supplements influence the infant airway microbiota in a randomized factorial clinical trial

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Carotid-femoral pulse wave velocity is a risk marker for complications in persons with type 1 diabetes

    Research output: Contribution to conferenceConference abstract for conferenceResearch

  4. Virulent coliphages in 1-year-old children fecal samples are fewer, but more infectious than temperate coliphages

    Research output: Contribution to journalJournal articleResearchpeer-review

  • UK10K Consortium
View graph of relations

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.

Original languageEnglish
JournalNature Communications
Volume10
Issue number1
Pages (from-to)357
ISSN2041-1723
DOIs
Publication statusPublished - 21 Jan 2019

ID: 56442255