Haworth, Simon ORCID: 0000-0001-7793-7326, Shapland, Chin Yang, Hayward, Caroline ORCID: 0000-0002-9405-9550, Prins, Bram P., Felix, Janine F., Medina-Gomez, Carolina ORCID: 0000-0001-7999-5538, Rivadeneira, Fernando ORCID: 0000-0001-9435-9441, Wang, Carol, Ahluwalia, Tarunveer S., Vrijheid, Martine ORCID: 0000-0002-7090-1758, Guxens, Monica, Sunyer, Jordi ORCID: 0000-0002-2602-4110, Tachmazidou, Ioanna, Walter, Klaudia, Iotchkova, Valentina, Jackson, Andrew ORCID: 0000-0002-8739-2646, Cleal, Louise, Huffmann, Jennifer, Min, Josine L., Sass, Laerke ORCID: 0000-0002-5217-7014, Timmers, Paul R. H. J., Al Turki, Saeed, Anderson, Carl A., Anney, Richard, Antony, Dinu, Artigas, Maria Soler, Ayub, Muhammad, Bala, Senduran, Barrett, Jeffrey C., Barroso, Ines, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo ORCID: 0000-0002-5571-0478, Birney, Ewan ORCID: 0000-0001-8314-8497, Blackwood, Douglas, Bobrow, Martin, Bochukova, Elena, Bolton, Patrick F., Bounds, Rebecca, Boustred, Chris, Breen, Gerome, Calissano, Mattia, Carss, Keren, Charlton, Ruth, Chatterjee, Krishna, Chen, Lu, Ciampi, Antonio, Cirak, Sebahattin, Clapham, Peter, Clement, Gail, Coates, Guy, Cocca, Massimiliano, Collier, David A., Cosgrove, Catherine, Cox, Tony, Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Daly, Allan, Danecek, Petr, Day, Ian N. M., Day-Williams, Aaron, Dominiczak, Anna, Down, Thomas, Du, Yuanping, Dunham, Ian ORCID: 0000-0003-2525-5598, Durbin, Richard ORCID: 0000-0002-9130-1006, Edkins, Sarah, Ekong, Rosemary ORCID: 0000-0002-5984-7893, Ellis, Peter, Evans, David M., Farooqi, I. Sadaf, Fitzpatrick, David R., Flicek, Paul, Floyd, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Gallagher, Louise ORCID: 0000-0001-9462-2836, Gaunt, Tom R., Geihs, Matthias, Geschwind, Daniel, Greenwood, Celia M. T., Griffin, Heather, Grozeva, Detelina, Guo, Xiaosen, Guo, Xueqin, Gurling, Hugh, Hart, Deborah, Hendricks, Audrey E., Holmans, Peter, Howie, Bryan, Huang, Jie, Huang, Liren, Hubbard, Tim, Humphries, Steve E., Hurles, Matthew E., Hysi, Pirro, Jackson, David K., Jamshidi, Yalda ORCID: 0000-0003-0151-6482, Joyce, Chris, Karczewski, Konrad J., Kaye, Jane ORCID: 0000-0002-7311-4725, Keane, Thomas, Kemp, John P., Kennedy, Karen, Kent, Alastair, Keogh, Julia, Khawaja, Farrah, van Kogelenberg, Margriet, Kolb-Kokocinski, Anja, Lachance, Genevieve, Langford, Cordelia, Lawson, Daniel ORCID: 0000-0002-5311-6213, Lee, Irene, Lek, Monkol, Li, Rui, Li, Yingrui, Liang, Jieqin, Lin, Hong, Liu, Ryan, Lonnqvist, Jouko, Lopes, Luis R., Lopes, Margarida, MacArthur, Daniel G., Mangino, Massimo, Marchini, Jonathan, Marenne, Gaelle, Maslen, John, Mathieson, Iain, McCarthy, Shane, McGuffin, Peter, McIntosh, Andrew M., McKechanie, Andrew G., McQuillin, Andrew ORCID: 0000-0003-1567-2240, Memari, Yasin, Metrustry, Sarah, Migone, Nicola, Mitchison, Hannah M., Moayyeri, Alireza, Morris, Andrew, Morris, James, Muddyman, Dawn, Muntoni, Francesco, Northstone, Kate ORCID: 0000-0002-0602-1983, O'Donovan, Michael C., O'Rahilly, Stephen, Onoufriadis, Alexandros, Oualkacha, Karim, Owen, Michael J., Palotie, Aarno, Panoutsopoulou, Kalliope, Parker, Victoria, Parr, Jeremy R., Paternoster, Lavinia, Paunio, Tiina, Payne, Felicity, Payne, Stewart J., Perry, John R. B., Pietilainen, Olli, Plagnol, Vincent, Pollitt, Rebecca C., Porteous, David J., Povey, Sue, Quail, Michael A., Quaye, Lydia, Raymond, F. Lucy, Rehnstrom, Karola, Richards, J. Brent, Ridout, Cheryl K., Ring, Susan, Ritchie, Graham R. S., Roberts, Nicola, Robinson, Rachel L., Savage, David B., Scambler, Peter, Schiffels, Stephan, Schmidts, Miriam ORCID: 0000-0002-1714-6749, Schoenmakers, Nadia, Scott, Richard H., Semple, Robert K., Serra, Eva, Sharp, Sally I., Shaw, Adam, Shihab, Hashem A., Shin, So-Youn, Skuse, David, Small, Kerrin S., Smee, Carol, Smith, Blair H., Soranzo, Nicole, Southam, Lorraine, Spasic-Boskovic, Olivera, Spector, Timothy D., St Clair, David, Stalker, Jim, Stevens, Elizabeth, Sun, Jianping, Surdulescu, Gabriela, Suvisaari, Jaana, Syrris, Petros, Taylor, Rohan, Tian, Jing, Tobin, Martin D., Valdes, Ana M., Vandersteen, Anthony M., Vijayarangakannan, Parthiban, Visscher, Peter M., Wain, Louise V., Walters, James T. R., Wang, Guangbiao, Wang, Jun, Wang, Yu, Ward, Kirsten, Wheeler, Eleanor, Whyte, Tamieka, Williams, Hywel J., Williamson, Kathleen A., Wilson, Crispian, Wilson, Scott G., Wong, Kim, Xu, ChangJiang, Yang, Jian, Zhang, Feng, Zhang, Pingbo, Zheng, Hou-Feng, Smith, George Davey ORCID: 0000-0002-1407-8314, Fisher, Simon E. ORCID: 0000-0002-3132-1996, Wilson, James F., Cole, Tim J., Fernandez-Orth, Dietmar, Bonnelykke, Klaus, Bisgaard, Hans ORCID: 0000-0003-4131-7592, Pennell, Craig E., Jaddoe, Vincent W. V., Dedoussis, George, Timpson, Nicholas ORCID: 0000-0002-7141-9189, Zeggini, Eleftheria, Vitart, Veronique and St Pourcain, Beate ORCID: 0000-0002-4680-3517
(2019).
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Nat. Commun., 10.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723
Full text not available from this repository.
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.
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Journal Article
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
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Haworth, Simon | UNSPECIFIED | orcid.org/0000-0001-7793-7326 | UNSPECIFIED | Shapland, Chin Yang | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hayward, Caroline | UNSPECIFIED | orcid.org/0000-0002-9405-9550 | UNSPECIFIED | Prins, Bram P. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Felix, Janine F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Medina-Gomez, Carolina | UNSPECIFIED | orcid.org/0000-0001-7999-5538 | UNSPECIFIED | Rivadeneira, Fernando | UNSPECIFIED | orcid.org/0000-0001-9435-9441 | UNSPECIFIED | Wang, Carol | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ahluwalia, Tarunveer S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vrijheid, Martine | UNSPECIFIED | orcid.org/0000-0002-7090-1758 | UNSPECIFIED | Guxens, Monica | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sunyer, Jordi | UNSPECIFIED | orcid.org/0000-0002-2602-4110 | UNSPECIFIED | Tachmazidou, Ioanna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Walter, Klaudia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Iotchkova, Valentina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jackson, Andrew | UNSPECIFIED | orcid.org/0000-0002-8739-2646 | UNSPECIFIED | Cleal, Louise | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Huffmann, Jennifer | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Min, Josine L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sass, Laerke | UNSPECIFIED | orcid.org/0000-0002-5217-7014 | UNSPECIFIED | Timmers, Paul R. H. J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Al Turki, Saeed | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Anderson, Carl A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Anney, Richard | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Antony, Dinu | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Artigas, Maria Soler | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ayub, Muhammad | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bala, Senduran | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Barrett, Jeffrey C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Barroso, Ines | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beales, Phil | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bentham, Jamie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bhattacharya, Shoumo | UNSPECIFIED | orcid.org/0000-0002-5571-0478 | UNSPECIFIED | Birney, Ewan | UNSPECIFIED | orcid.org/0000-0001-8314-8497 | UNSPECIFIED | Blackwood, Douglas | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bobrow, Martin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bochukova, Elena | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bolton, Patrick F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bounds, Rebecca | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Boustred, Chris | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Breen, Gerome | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Calissano, Mattia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Carss, Keren | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Charlton, Ruth | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chatterjee, Krishna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chen, Lu | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ciampi, Antonio | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cirak, Sebahattin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Clapham, Peter | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Clement, Gail | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Coates, Guy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cocca, Massimiliano | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Collier, David A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cosgrove, Catherine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cox, Tony | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Craddock, Nick | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Crooks, Lucy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Curran, Sarah | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Curtis, David | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Daly, Allan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Danecek, Petr | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Day, Ian N. 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Reghan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Franklin, Christopher S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Futema, Marta | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gallagher, Louise | UNSPECIFIED | orcid.org/0000-0001-9462-2836 | UNSPECIFIED | Gaunt, Tom R. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Geihs, Matthias | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Geschwind, Daniel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Greenwood, Celia M. 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|
URN: |
urn:nbn:de:hbz:38-159044 |
DOI: |
10.1038/s41467-018-07863-x |
Journal or Publication Title: |
Nat. Commun. |
Volume: |
10 |
Date: |
2019 |
Publisher: |
NATURE PUBLISHING GROUP |
Place of Publication: |
LONDON |
ISSN: |
2041-1723 |
Language: |
English |
Faculty: |
Unspecified |
Divisions: |
Unspecified |
Subjects: |
no entry |
Uncontrolled Keywords: |
Keywords | Language |
---|
GENOME-WIDE ASSOCIATION; LD SCORE REGRESSION; GENETIC ARCHITECTURE; COMMON VARIANTS; GROWTH; BRAIN; GWAS; HERITABILITY; IMPUTATION; WEIGHT | Multiple languages | Multidisciplinary Sciences | Multiple languages |
|
Refereed: |
Yes |
URI: |
http://kups.ub.uni-koeln.de/id/eprint/15904 |
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