Insights into the genetic architecture of the human face

Julie D. White; Karlijne Indencleef; Sahin Naqvi; Ryan J. Eller; Hanne Hoskens; Jasmien Roosenboom; Myoung Keun Lee; Jiarui Li; Jaaved Mohammed; Stephen Richmond; Ellen E. Quillen; Heather L. Norton; Eleanor Feingold; Tomek Swigut; Mary L. Marazita; Hilde Peeters; Greet Hens; John R. Shaffer; Joanna Wysocka; Susan Walsh; Seth M. Weinberg; Mark D. Shriver; Peter Claes

doi:10.1038/s41588-020-00741-7

Insights into the genetic architecture of the human face

Julie D. White, Karlijne Indencleef, Sahin Naqvi, Ryan J. Eller, Hanne Hoskens, Jasmien Roosenboom, Myoung Keun Lee, Jiarui Li, Jaaved Mohammed, Stephen Richmond, Ellen E. Quillen, Heather L. Norton, Eleanor Feingold, Tomek Swigut, Mary L. Marazita, Hilde Peeters, Greet Hens, John R. Shaffer, Joanna Wysocka, Susan WalshSeth M. Weinberg, Mark D. Shriver, Peter Claes

Anthropology

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89 Scopus citations

Abstract

The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses indicate that the regions surrounding these signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple signals with associations to different facial phenotypes, and there is evidence for potential coordinated actions of variants. In summary, our analyses provide insights into the understanding of how complex morphological traits are shaped by both individual and coordinated genetic actions.

Original language	English (US)
Pages (from-to)	45-53
Number of pages	9
Journal	Nature Genetics
Volume	53
Issue number	1
DOIs	https://doi.org/10.1038/s41588-020-00741-7
State	Published - Jan 2021

All Science Journal Classification (ASJC) codes

Genetics

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10.1038/s41588-020-00741-7

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White, J. D., Indencleef, K., Naqvi, S., Eller, R. J., Hoskens, H., Roosenboom, J., Lee, M. K., Li, J., Mohammed, J., Richmond, S., Quillen, E. E., Norton, H. L., Feingold, E., Swigut, T., Marazita, M. L., Peeters, H., Hens, G., Shaffer, J. R., Wysocka, J., ... Claes, P. (2021). Insights into the genetic architecture of the human face. Nature Genetics, 53(1), 45-53. https://doi.org/10.1038/s41588-020-00741-7

@article{d3e97666fd3f4830b4343fa319fbb11c,

title = "Insights into the genetic architecture of the human face",

abstract = "The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses indicate that the regions surrounding these signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple signals with associations to different facial phenotypes, and there is evidence for potential coordinated actions of variants. In summary, our analyses provide insights into the understanding of how complex morphological traits are shaped by both individual and coordinated genetic actions.",

author = "White, {Julie D.} and Karlijne Indencleef and Sahin Naqvi and Eller, {Ryan J.} and Hanne Hoskens and Jasmien Roosenboom and Lee, {Myoung Keun} and Jiarui Li and Jaaved Mohammed and Stephen Richmond and Quillen, {Ellen E.} and Norton, {Heather L.} and Eleanor Feingold and Tomek Swigut and Marazita, {Mary L.} and Hilde Peeters and Greet Hens and Shaffer, {John R.} and Joanna Wysocka and Susan Walsh and Weinberg, {Seth M.} and Shriver, {Mark D.} and Peter Claes",

note = "Publisher Copyright: {\textcopyright} 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.",

year = "2021",

month = jan,

doi = "10.1038/s41588-020-00741-7",

language = "English (US)",

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White, JD, Indencleef, K, Naqvi, S, Eller, RJ, Hoskens, H, Roosenboom, J, Lee, MK, Li, J, Mohammed, J, Richmond, S, Quillen, EE, Norton, HL, Feingold, E, Swigut, T, Marazita, ML, Peeters, H, Hens, G, Shaffer, JR, Wysocka, J, Walsh, S, Weinberg, SM, Shriver, MD & Claes, P 2021, 'Insights into the genetic architecture of the human face', Nature Genetics, vol. 53, no. 1, pp. 45-53. https://doi.org/10.1038/s41588-020-00741-7

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AU - White, Julie D.

AU - Indencleef, Karlijne

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AU - Eller, Ryan J.

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AU - Roosenboom, Jasmien

AU - Lee, Myoung Keun

AU - Li, Jiarui

AU - Mohammed, Jaaved

AU - Richmond, Stephen

AU - Quillen, Ellen E.

AU - Norton, Heather L.

AU - Feingold, Eleanor

AU - Swigut, Tomek

AU - Marazita, Mary L.

AU - Peeters, Hilde

AU - Hens, Greet

AU - Shaffer, John R.

AU - Wysocka, Joanna

AU - Walsh, Susan

AU - Weinberg, Seth M.

AU - Shriver, Mark D.

AU - Claes, Peter

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AB - The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses indicate that the regions surrounding these signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple signals with associations to different facial phenotypes, and there is evidence for potential coordinated actions of variants. In summary, our analyses provide insights into the understanding of how complex morphological traits are shaped by both individual and coordinated genetic actions.

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Insights into the genetic architecture of the human face

Abstract

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