A genome-wide association study identifies five loci influencing facial morphology in Europeans

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A genome-wide association study identifies five loci influencing facial morphology in Europeans. / Liu, Fan; van der Lijn, Fedde; Schurmann, Claudia; Zhu, Gu; Chakravarty, M. Mallar; Hysi, Pirro G.; Wollstein, Andreas; Lao, Oscar; de Bruijne, Marleen; Ikram, M. Arfan; van der Lugt, Aad; Rivadeneira, Fernando; Uitterlinden, Andre G. ; Hofman, Albert; Niessen, Wiro J.; Homuth, Georg; de Zubicaray, Greig; McMahon, Katie L.; Thompson, Paul M.; Daboul, Amro; Puls, Ralf; Hegenscheid, Katrin; Bevan, Liisa; Pausova, Zdenka; Medland, Sarah E.; Montgomery, Grant W.; Wright, Margaret J.; Wicking, Carol; Boehringer, Stefan; Spector, Timothy D.; Paus, Tomas; Martin, Nicholas G.; Biffar, Reiner; Kayser, Manfred.

In: P L o S Genetics, Vol. 8, No. 9, e1002932, 2012.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Liu, F, van der Lijn, F, Schurmann, C, Zhu, G, Chakravarty, MM, Hysi, PG, Wollstein, A, Lao, O, de Bruijne, M, Ikram, MA, van der Lugt, A, Rivadeneira, F, Uitterlinden, AG, Hofman, A, Niessen, WJ, Homuth, G, de Zubicaray, G, McMahon, KL, Thompson, PM, Daboul, A, Puls, R, Hegenscheid, K, Bevan, L, Pausova, Z, Medland, SE, Montgomery, GW, Wright, MJ, Wicking, C, Boehringer, S, Spector, TD, Paus, T, Martin, NG, Biffar, R & Kayser, M 2012, 'A genome-wide association study identifies five loci influencing facial morphology in Europeans', P L o S Genetics, vol. 8, no. 9, e1002932. https://doi.org/10.1371/journal.pgen.1002932

APA

Liu, F., van der Lijn, F., Schurmann, C., Zhu, G., Chakravarty, M. M., Hysi, P. G., Wollstein, A., Lao, O., de Bruijne, M., Ikram, M. A., van der Lugt, A., Rivadeneira, F., Uitterlinden, A. G., Hofman, A., Niessen, W. J., Homuth, G., de Zubicaray, G., McMahon, K. L., Thompson, P. M., ... Kayser, M. (2012). A genome-wide association study identifies five loci influencing facial morphology in Europeans. P L o S Genetics, 8(9), [e1002932]. https://doi.org/10.1371/journal.pgen.1002932

Vancouver

Liu F, van der Lijn F, Schurmann C, Zhu G, Chakravarty MM, Hysi PG et al. A genome-wide association study identifies five loci influencing facial morphology in Europeans. P L o S Genetics. 2012;8(9). e1002932. https://doi.org/10.1371/journal.pgen.1002932

Author

Liu, Fan ; van der Lijn, Fedde ; Schurmann, Claudia ; Zhu, Gu ; Chakravarty, M. Mallar ; Hysi, Pirro G. ; Wollstein, Andreas ; Lao, Oscar ; de Bruijne, Marleen ; Ikram, M. Arfan ; van der Lugt, Aad ; Rivadeneira, Fernando ; Uitterlinden, Andre G. ; Hofman, Albert ; Niessen, Wiro J. ; Homuth, Georg ; de Zubicaray, Greig ; McMahon, Katie L. ; Thompson, Paul M. ; Daboul, Amro ; Puls, Ralf ; Hegenscheid, Katrin ; Bevan, Liisa ; Pausova, Zdenka ; Medland, Sarah E. ; Montgomery, Grant W. ; Wright, Margaret J. ; Wicking, Carol ; Boehringer, Stefan ; Spector, Timothy D. ; Paus, Tomas ; Martin, Nicholas G. ; Biffar, Reiner ; Kayser, Manfred. / A genome-wide association study identifies five loci influencing facial morphology in Europeans. In: P L o S Genetics. 2012 ; Vol. 8, No. 9.

Bibtex

@article{e9b2de052ba24465acb7b2a25134ee66,
title = "A genome-wide association study identifies five loci influencing facial morphology in Europeans",
abstract = "Monozygotic twins look more alike than dizygotic twins or other siblings, and siblings in turn look more alike than unrelated individuals, indicating that human facial morphology has a strong genetic component. We quantitatively assessed human facial shape phenotypes based on statistical shape analyses of facial landmarks obtained from three-dimensional magnetic resonance images of the head. These phenotypes turned out to be highly promising for studying the genetic basis of human facial variation in that they showed high heritability in our twin data. A subsequent genome-wide association study (GWAS) identified five candidate genes affecting facial shape in Europeans: PRDM16, PAX3, TP63, C5orf50, and COL17A1. In addition, our data suggest that genetic variants associated with NSCL/P also influence normal facial shape variation. Overall, this study provides novel and confirmatory links between common DNA variants and normal variation in human facial morphology. Our results also suggest that the high heritability of facial phenotypes seems to be explained by a large number of DNA variants with relatively small individual effect size, a phenomenon well known for other complex human traits, such as adult body height.",
author = "Fan Liu and {van der Lijn}, Fedde and Claudia Schurmann and Gu Zhu and Chakravarty, {M. Mallar} and Hysi, {Pirro G.} and Andreas Wollstein and Oscar Lao and {de Bruijne}, Marleen and Ikram, {M. Arfan} and {van der Lugt}, Aad and Fernando Rivadeneira and Uitterlinden, {Andre G.} and Albert Hofman and Niessen, {Wiro J.} and Georg Homuth and {de Zubicaray}, Greig and McMahon, {Katie L.} and Thompson, {Paul M.} and Amro Daboul and Ralf Puls and Katrin Hegenscheid and Liisa Bevan and Zdenka Pausova and Medland, {Sarah E.} and Montgomery, {Grant W.} and Wright, {Margaret J.} and Carol Wicking and Stefan Boehringer and Spector, {Timothy D.} and Tomas Paus and Martin, {Nicholas G.} and Reiner Biffar and Manfred Kayser",
year = "2012",
doi = "10.1371/journal.pgen.1002932",
language = "English",
volume = "8",
journal = "P L o S Genetics",
issn = "1553-7390",
publisher = "Public Library of Science",
number = "9",

}

RIS

TY - JOUR

T1 - A genome-wide association study identifies five loci influencing facial morphology in Europeans

AU - Liu, Fan

AU - van der Lijn, Fedde

AU - Schurmann, Claudia

AU - Zhu, Gu

AU - Chakravarty, M. Mallar

AU - Hysi, Pirro G.

AU - Wollstein, Andreas

AU - Lao, Oscar

AU - de Bruijne, Marleen

AU - Ikram, M. Arfan

AU - van der Lugt, Aad

AU - Rivadeneira, Fernando

AU - Uitterlinden, Andre G.

AU - Hofman, Albert

AU - Niessen, Wiro J.

AU - Homuth, Georg

AU - de Zubicaray, Greig

AU - McMahon, Katie L.

AU - Thompson, Paul M.

AU - Daboul, Amro

AU - Puls, Ralf

AU - Hegenscheid, Katrin

AU - Bevan, Liisa

AU - Pausova, Zdenka

AU - Medland, Sarah E.

AU - Montgomery, Grant W.

AU - Wright, Margaret J.

AU - Wicking, Carol

AU - Boehringer, Stefan

AU - Spector, Timothy D.

AU - Paus, Tomas

AU - Martin, Nicholas G.

AU - Biffar, Reiner

AU - Kayser, Manfred

PY - 2012

Y1 - 2012

N2 - Monozygotic twins look more alike than dizygotic twins or other siblings, and siblings in turn look more alike than unrelated individuals, indicating that human facial morphology has a strong genetic component. We quantitatively assessed human facial shape phenotypes based on statistical shape analyses of facial landmarks obtained from three-dimensional magnetic resonance images of the head. These phenotypes turned out to be highly promising for studying the genetic basis of human facial variation in that they showed high heritability in our twin data. A subsequent genome-wide association study (GWAS) identified five candidate genes affecting facial shape in Europeans: PRDM16, PAX3, TP63, C5orf50, and COL17A1. In addition, our data suggest that genetic variants associated with NSCL/P also influence normal facial shape variation. Overall, this study provides novel and confirmatory links between common DNA variants and normal variation in human facial morphology. Our results also suggest that the high heritability of facial phenotypes seems to be explained by a large number of DNA variants with relatively small individual effect size, a phenomenon well known for other complex human traits, such as adult body height.

AB - Monozygotic twins look more alike than dizygotic twins or other siblings, and siblings in turn look more alike than unrelated individuals, indicating that human facial morphology has a strong genetic component. We quantitatively assessed human facial shape phenotypes based on statistical shape analyses of facial landmarks obtained from three-dimensional magnetic resonance images of the head. These phenotypes turned out to be highly promising for studying the genetic basis of human facial variation in that they showed high heritability in our twin data. A subsequent genome-wide association study (GWAS) identified five candidate genes affecting facial shape in Europeans: PRDM16, PAX3, TP63, C5orf50, and COL17A1. In addition, our data suggest that genetic variants associated with NSCL/P also influence normal facial shape variation. Overall, this study provides novel and confirmatory links between common DNA variants and normal variation in human facial morphology. Our results also suggest that the high heritability of facial phenotypes seems to be explained by a large number of DNA variants with relatively small individual effect size, a phenomenon well known for other complex human traits, such as adult body height.

U2 - 10.1371/journal.pgen.1002932

DO - 10.1371/journal.pgen.1002932

M3 - Journal article

C2 - 23028347

VL - 8

JO - P L o S Genetics

JF - P L o S Genetics

SN - 1553-7390

IS - 9

M1 - e1002932

ER -

ID: 40588364