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http://hdl.handle.net/1942/34143
Title: | Shared heritability of human face and brain shape | Authors: | Naqvi, Sahin Sleyp, Yoeri Indencleef, Karlijne Spence, Jeffrey P. BRUFFAERTS, Rose Radwan, Ahmed Eller, Ryan J. Richmond, Stephen Shriver, Mark D. Shaffer, John R. Weinberg, Seth M. Walsh, Susan Thompson, James Pritchard, Jonathan K. Sunaert, Stefan Peeters, Hilde Wysocka, Joanna Claes, Peter Hoskens, Hanne |
Issue Date: | 2021 | Publisher: | NATURE RESEARCH | Source: | NATURE GENETICS, 53(6), p. 830–839 | Abstract: | Evidence from model organisms and clinical genetics suggests coordination between the developing brain and face, but the role of this link in common genetic variation remains unknown. We performed a multivariate genome-wide association study of cortical surface morphology in 19,644 individuals of European ancestry, identifying 472 genomic loci influencing brain shape, of which 76 are also linked to face shape. Shared loci include transcription factors involved in craniofacial development, as well as members of signaling pathways implicated in brain-face cross-talk. Brain shape heritability is equivalently enriched near regulatory regions active in either forebrain organoids or facial progenitors. However, we do not detect significant overlap between shared brain-face genome-wide association study signals and variants affecting behavioral-cognitive traits. These results suggest that early in embryogenesis, the face and brain mutually shape each other through both structural effects and paracrine signaling, but this interplay may not impact later brain development associated with cognitive function. A multivariate genome-wide association study highlighting loci that influence both face and brain shape suggesting shared developmental axes during early embryogenesis. These loci did not overlap with those governing behavioral-cognitive traits or neuropsychiatric risk indicating divergence between early brain development and cognitive function. | Notes: | Naqvi, S; Wysocka, J (corresponding author), Stanford Univ, Sch Med, Dept Chem & Syst Biol, Stanford, CA 94305 USA.; Naqvi, S (corresponding author), Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA.; Naqvi, S (corresponding author), Stanford Univ, Sch Med, Dept Biol, Stanford, CA 94305 USA.; Claes, P (corresponding author), Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium.; Claes, P (corresponding author), Univ Hosp Leuven, Med Imaging Res Ctr, Leuven, Belgium.; Claes, P (corresponding author), Katholieke Univ Leuven, ESAT PSI, Dept Elect Engn, Leuven, Belgium.; Wysocka, J (corresponding author), Stanford Univ, Sch Med, Dept Dev Biol, Stanford, CA 94305 USA.; Wysocka, J (corresponding author), Stanford Univ, Sch Med, Howard Hughes Med Inst, Stanford, CA 94305 USA.; Claes, P (corresponding author), Murdoch Childrens Res Inst, Melbourne, Vic, Australia. naqvi@stanford.edu; wysocka@stanford.edu; peter.claes@kuleuven.be |
Other: | Naqvi, S; Wysocka, J (corresponding author), Stanford Univ, Sch Med, Dept Chem & Syst Biol, Stanford, CA 94305 USA ; Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA ; Stanford Univ, Sch Med, Dept Biol, Stanford, CA 94305 USA. Claes, P (corresponding author), Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium. ; Univ Hosp Leuven, Med Imaging Res Ctr, Leuven, Belgium ; Katholieke Univ Leuven, ESAT PSI, Dept Elect Engn, Leuven, Belgium ; Murdoch Childrens Res Inst, Melbourne, Vic, Australia. Wysocka, J (corresponding author), Stanford Univ, Sch Med, Dept Dev Biol, Stanford, CA 94305 USA ; Stanford Univ, Sch Med, Howard Hughes Med Inst, Stanford, CA 94305 USA. | Document URI: | http://hdl.handle.net/1942/34143 | ISSN: | 1061-4036 | e-ISSN: | 1546-1718 | DOI: | 10.1038/s41588-021-00827-w | ISI #: | WOS:000636960100004 | Rights: | © The Author(s), under exclusive licence to Springer Nature America, Inc. 2021, corrected publication 2021 | Category: | A1 | Type: | Journal Contribution | Validations: | ecoom 2022 |
Appears in Collections: | Research publications |
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