Literature DB >> 35393595

Genetic variants underlying differences in facial morphology in East Asian and European populations.

Manfei Zhang1,2,3, Sijie Wu1,2,4, Siyuan Du2, Wei Qian1,2,3, Jieyi Chen2,4, Lu Qiao2, Yajun Yang4, Jingze Tan4, Ziyu Yuan5, Qianqian Peng2, Yu Liu2, Nicolas Navarro6,7, Kun Tang2, Andrés Ruiz-Linares1,4,8,9, Jiucun Wang1,5, Peter Claes10,11,12,13, Li Jin14,15,16, Jiarui Li17,18,19, Sijia Wang20,21,22.   

Abstract

Facial morphology-a conspicuous feature of human appearance-is highly heritable. Previous studies on the genetic basis of facial morphology were performed mainly in European-ancestry cohorts (EUR). Applying a data-driven phenotyping and multivariate genome-wide scanning protocol to a large collection of three-dimensional facial images of individuals with East Asian ancestry (EAS), we identified 244 variants in 166 loci (62 new) associated with typical-range facial variation. A newly proposed polygenic shape analysis indicates that the effects of the variants on facial shape in EAS can be generalized to EUR. Based on this, we further identified 13 variants related to differences between facial shape in EUR and EAS populations. Evolutionary analyses suggest that the difference in nose shape between EUR and EAS populations is caused by a directional selection, due mainly to a local adaptation in Europeans. Our results illustrate the underlying genetic basis for facial differences across populations.
© 2022. The Author(s), under exclusive licence to Springer Nature America, Inc.

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Mesh：

Year:  2022        PMID： 35393595     DOI： 10.1038/s41588-022-01038-7

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  61 in total

1.  Genome-wide mapping of global-to-local genetic effects on human facial shape.

Authors:  Peter Claes; Jasmien Roosenboom; Julie D White; Tomek Swigut; Dzemila Sero; Jiarui Li; Myoung Keun Lee; Arslan Zaidi; Brooke C Mattern; Corey Liebowitz; Laurel Pearson; Tomás González; Elizabeth J Leslie; Jenna C Carlson; Ekaterina Orlova; Paul Suetens; Dirk Vandermeulen; Eleanor Feingold; Mary L Marazita; John R Shaffer; Joanna Wysocka; Mark D Shriver; Seth M Weinberg
Journal:  Nat Genet       Date:  2018-02-19       Impact factor: 38.330

2.  Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position.

Authors:  Lavinia Paternoster; Alexei I Zhurov; Arshed M Toma; John P Kemp; Beate St Pourcain; Nicholas J Timpson; George McMahon; Wendy McArdle; Susan M Ring; George Davey Smith; Stephen Richmond; David M Evans
Journal:  Am J Hum Genet       Date:  2012-02-16       Impact factor: 11.025

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

Authors:  Fan Liu; Fedde van der Lijn; Claudia Schurmann; Gu Zhu; M Mallar Chakravarty; Pirro G Hysi; Andreas Wollstein; Oscar Lao; Marleen de Bruijne; M Arfan Ikram; Aad van der Lugt; Fernando Rivadeneira; André G Uitterlinden; Albert Hofman; Wiro J Niessen; Georg Homuth; Greig de Zubicaray; Katie L McMahon; Paul M Thompson; Amro Daboul; Ralf Puls; Katrin Hegenscheid; Liisa Bevan; Zdenka Pausova; Sarah E Medland; Grant W Montgomery; Margaret J Wright; Carol Wicking; Stefan Boehringer; Timothy D Spector; Tomáš Paus; Nicholas G Martin; Reiner Biffar; Manfred Kayser
Journal:  PLoS Genet       Date:  2012-09-13       Impact factor: 5.917

4.  A genome-wide association study identifies multiple loci for variation in human ear morphology.

Authors:  Kaustubh Adhikari; Guillermo Reales; Andrew J P Smith; Esra Konka; Jutta Palmen; Mirsha Quinto-Sanchez; Victor Acuña-Alonzo; Claudia Jaramillo; William Arias; Macarena Fuentes; María Pizarro; Rodrigo Barquera Lozano; Gastón Macín Pérez; Jorge Gómez-Valdés; Hugo Villamil-Ramírez; Tábita Hunemeier; Virginia Ramallo; Caio C Silva de Cerqueira; Malena Hurtado; Valeria Villegas; Vanessa Granja; Carla Gallo; Giovanni Poletti; Lavinia Schuler-Faccini; Francisco M Salzano; Maria-Cátira Bortolini; Samuel Canizales-Quinteros; Francisco Rothhammer; Gabriel Bedoya; Rosario Calderón; Javier Rosique; Michael Cheeseman; Mahmood F Bhutta; Steve E Humphries; Rolando Gonzalez-José; Denis Headon; David Balding; Andrés Ruiz-Linares
Journal:  Nat Commun       Date:  2015-06-24       Impact factor: 14.919

5.  Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2.

Authors:  Myoung Keun Lee; John R Shaffer; Elizabeth J Leslie; Ekaterina Orlova; Jenna C Carlson; Eleanor Feingold; Mary L Marazita; Seth M Weinberg
Journal:  PLoS One       Date:  2017-04-25       Impact factor: 3.240

6.  Identification of five novel genetic loci related to facial morphology by genome-wide association studies.

Authors:  Seongwon Cha; Ji Eun Lim; Ah Yeon Park; Jun-Hyeong Do; Si Woo Lee; Chol Shin; Nam Han Cho; Ji-One Kang; Jeong Min Nam; Jong-Sik Kim; Kwang-Man Woo; Seung-Hwan Lee; Jong Yeol Kim; Bermseok Oh
Journal:  BMC Genomics       Date:  2018-06-19       Impact factor: 3.969

7.  A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation.

Authors:  Kaustubh Adhikari; Macarena Fuentes-Guajardo; Mirsha Quinto-Sánchez; Javier Mendoza-Revilla; Juan Camilo Chacón-Duque; Victor Acuña-Alonzo; Claudia Jaramillo; William Arias; Rodrigo Barquera Lozano; Gastón Macín Pérez; Jorge Gómez-Valdés; Hugo Villamil-Ramírez; Tábita Hunemeier; Virginia Ramallo; Caio C Silva de Cerqueira; Malena Hurtado; Valeria Villegas; Vanessa Granja; Carla Gallo; Giovanni Poletti; Lavinia Schuler-Faccini; Francisco M Salzano; Maria-Cátira Bortolini; Samuel Canizales-Quinteros; Michael Cheeseman; Javier Rosique; Gabriel Bedoya; Francisco Rothhammer; Denis Headon; Rolando González-José; David Balding; Andrés Ruiz-Linares
Journal:  Nat Commun       Date:  2016-05-19       Impact factor: 14.919

8.  Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape.

Authors:  Joanne B Cole; Mange Manyama; Emmanuel Kimwaga; Joshua Mathayo; Jacinda R Larson; Denise K Liberton; Ken Lukowiak; Tracey M Ferrara; Sheri L Riccardi; Mao Li; Washington Mio; Michaela Prochazkova; Trevor Williams; Hong Li; Kenneth L Jones; Ophir D Klein; Stephanie A Santorico; Benedikt Hallgrimsson; Richard A Spritz
Journal:  PLoS Genet       Date:  2016-08-25       Impact factor: 5.917

9.  Detection and interpretation of shared genetic influences on 42 human traits.

Authors:  Joseph K Pickrell; Tomaz Berisa; Jimmy Z Liu; Laure Ségurel; Joyce Y Tung; David A Hinds
Journal:  Nat Genet       Date:  2016-05-16       Impact factor: 38.330

10.  Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology.

Authors:  John R Shaffer; Ekaterina Orlova; Myoung Keun Lee; Elizabeth J Leslie; Zachary D Raffensperger; Carrie L Heike; Michael L Cunningham; Jacqueline T Hecht; Chung How Kau; Nichole L Nidey; Lina M Moreno; George L Wehby; Jeffrey C Murray; Cecelia A Laurie; Cathy C Laurie; Joanne Cole; Tracey Ferrara; Stephanie Santorico; Ophir Klein; Washington Mio; Eleanor Feingold; Benedikt Hallgrimsson; Richard A Spritz; Mary L Marazita; Seth M Weinberg
Journal:  PLoS Genet       Date:  2016-08-25       Impact factor: 5.917
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