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

Title:	Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
Authors:	Haworth, S.; Shapland, C.Y.; Hayward, C. (Caroline); Prins, B.P. (Bram); Felix, J.F. (Janine); Medina-Gomez, M.C. (Carolina); Rivadeneira Ramirez, F. (Fernando); Wang, C.; Ahluwalia, TS; Vrijheid, M. (Martine); Guxens Junyent, M. (Mònica); Sunyer, J. (Jordi); Tachmazidou, I; Walter, K.; Iotchkova, V; Jackson, A.U. (Anne); Cleal, L.; Huffmann, J.; Min, J. (Josine); Sass, L.; Timmers, P; Al Turki, S.; Anderson, CA; Anney, R. (Richard); Antony, D; Soler Artigas, M. (Maria); Ayub, M; Bala, S; Barrett, JC; Barroso, I.E. (Inês); Beales, P.; Bentham, J; Bhattacharya, S. (Shoumo); Birney, E. (Ewan); Blackwood, D; Bobrow, M; Bochukova, E; Bolton, PF; Bounds, R; Boustred, C; Breen, G. (Gerome); Calissano, M; Carss, K; Charlton, R; Chatterjee, K. (Krishna); Chen, L. (Leslie); Ciampi, A. (Antonio); Cirak, S; Clapham, P; Clement, G; Coates, G; Cocca, M; Collier, D.A. (David); Cosgrove, C; Cox, T. (Tessa); Craddock, N.J. (Nick); Crooks, L; Curran, S; Curtis, D. (David); Daly, A; Danecek, P; Day, I.N.M. (Ian); Day-Williams, A; Dominiczak, A. (Anna); Down, T; Li, Y. (Yingrui); Dunham, D.M. (David); Durbin, R; Edkins, T. (Ted); Ekong, R. (Rosemary); Ellis, P. (Paul); Evans, D.M. (David); Farooqi, I.S. (Sadaf); Fitzpatrick, D.R. (David); Flicek, P; Floyd, J. (Jamie); Foley, AR; Franklin, C.S. (Christopher); Futema, M; Gallagher, L. (Louise); Gaunt, T.R. (Tom); Geihs, M; Geschwind, D.; Greenwood, J.P. (John); Griffin, H; Grozeva, D. (Detelina); Guo, X.S.; Guo, X. (Xiuqing); Gurling, H. (Hugh); Hart, D.J. (Deborah); Hendricks, AE; Holmans, P.A. (Peter); Howie, B; Huang, J. (Jian); Huang, L.R.; Hubbard, T.; Humphries, S.E. (Steve); Hurles, M.E. (Matthew); Hysi, P.G. (Pirro); Jackson, DK; Jamshidi, Y. (Yalda); Joyce, C; Karczewski, KJ; Kaye, J. (Jane); Keane, T; Kemp, J.P.; Kennedy, K. (Karen); Kent, A. (Alistair); Keogh, J; Khawaja, F; van Kogelenberg, M.; Kolb-Kokocinski, A; Lachance, G; Langford, C. (Cordelia); Lawson, D; Lee, I. van der; Lek, M; Li, R. (Rui); Li, Y.R. (Yun); Liang, J.Q.; Lin, H.; Liu, R; Lonnqvist, J; Lopes, LR; Lopes, M.; MacArthur, DG; Mangino, M. (Massimo); Marchini, J. (Jonathan); Marenne, G.; Maslen, J.; Mathieson, I. (Iain); McCarthy, S. (Sean); Mcguffin, P. (Peter); Mcintosh, A.M. (Andrew); McKechanie, AG; McQuillin, A. (Andrew); Memari, Y; Metrustry, S. (Sarah); Migone, N; Mitchison, H.M. (Hannah); Moayyeri, A. (Alireza); Morris, A.D. (Andrew); Morris, J; Muddyman, D; Muntoni, F.; Northstone, K. (Kate); O'Donovan, M. (Michael); O'Rahilly, S. (Stephen); Onoufriadis, A; Oualkacha, K.; Owen, M.J.; Palotie, A. (Aarno); Panoutsopoulou, K; Parker, V.; Parr, D.; Paternoster, L. (Lavinia); Paunio, T; Payne, F. (Felicity); Payne, SJ; Perry, J.B. (John); Pietiläinen, O.P.H. (Olli); Plagnol, V; Pollitt, RC; Porteous, D.J. (David J.); Povey, S. (Sue); Quail, MA; Quaye, L. (Lydia); Raymond, FL; Rehnström, K. (Karola); Richards, J.B. (Brent); Ridout, CK; Ring, S.M. (Susan); Ritchie, GRS; Roberts, N. (Nicola); Robinson, RL; Savage, D.B. (David); Scambler, P.; Schiffels, S; Schmidts, M; Schoenmakers, N. (Nadia); Scott, RH; Semple, R.K. (Robert); Serra, E; Sharp, S.I.; Shaw, A. (Alison); Shihab, HA; Shin, S.-Y.; Skuse, D; Small, K.S. (Kerrin); Smee, C; Smith, B.H. (Blair); Soranzo, N. (Nicole); Southam, L. (Lorraine); Spasic-Boskovic, O; Spector, T.D. (Timothy); St. Clair, D. (David); Stalker, J; Stevens, E; Sun, J.P.; Surdulescu, G; Suvisaari, J. (Jaana); Syrris, P; R. Taylor (Rohan); Tian, J.; Tobin, M.D. (Martin); Valdes, A.M. (Ana Maria); Vandersteen, AM; Vijayarangakannan, P; Visscher, P.M. (Peter); Wain, L.V. (Louise); Walters, JTR; Wang, G. B.; Wang, J. (Jinxia); Wang, Y. (Ying); Ward, K; Wheeler, E. (Eleanor); Whyte, T; Williams, HJ; Williamson, K.A.; Wilson, C; Wilson, S.G. (Scott); Wong, K. (Kenny); Xu, CJ; Yang, J. (Jian); Zhang, F. (Feng); Zhang, P.B.; Zheng, H.-F. (Hou-Feng); Smith, A.V. (Davey); Fisher, SE; Wilson, J.F. (James F); Cole, T.J. (T.); Fernandez-Orth, D.; Bønnelykke, K. (Klaus); Bisgaard, H. (Hans); Pennell, C.E. (Craig); Jaddoe, V.W.V. (Vincent); Dedoussis, G; Timpson, N.J. (Nicholas); Zeggini, E. (Eleftheria); Vitart, V. (Veronique); Pourcain, B.S. (Beate)
Publisher Information:	2019-01-01
Document Type:	Electronic Resource
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 lowfrequency variants within TP53, with 0.5 cm wider heads in increaser-allele carriers versus non-carrie
Index Terms:	info:eu-repo/semantics/article
DOI:	10.1038.s41467-018-07863-x
URL:	http://repub.eur.nl/pub/114894
Availability:	Open access content. Open access content; info:eu-repo/semantics/openAccess
Note:	application/pdf; Nature Communications vol. 10; English
Other Numbers:	QGQ oai:repub.eur.nl:114894; doi:10.1038/s41467-018-07863-x; urn:hdl:1765/114894; 1089252541
Contributing Source:	ERASMUS UNIVERSITEIT ROTTERDAM; From OAIster®, provided by the OCLC Cooperative.
Accession Number:	edsoai.on1089252541
Database:	OAIster