Novel genetic loci affecting facial shape variation in humans
- Autores
- Xiong, Ziyi; Dankova, Gabriela; Howe, Laurence J.; Lee, Myoung Keun; Hysi, Pirro G.; De Jong, Markus A.; Zhu, Gu; Adhikar, Kaustubh; Li, Dan; Li, Yi; Pan, Bo; Feingold, Eleanor; Marazita, Mary L.; Shaffer, John R.; McAloney, Kerrie; Xu, Shuhua; Jin, Li; Wang, Sijia; De Vri, Femke M.; Lendemeije, Bas; Richmond, Stephen; Zhurov, Alexei; Lewis, Sarah; Sharp, Gemma; Paternoster, Lavinia; Thompson, Holly; Gonzalez-Jose, Rolando; Catira Bortolini, Maria; Canizales-Quinteros, Samuel; Gallo, Carla
- Año de publicación
- 2019
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p<5x10-8), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7,917 individuals confirmed 10 loci including 6 unreported ones (padjusted<2.1x10-3). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies.
Fil: Xiong, Ziyi. Erasmus University Medical Center; Países Bajos
Fil: Dankova, Gabriela. Erasmus University Medical Center; Países Bajos
Fil: Howe, Laurence J.. University Of Bristol; Reino Unido
Fil: Lee, Myoung Keun. University of Pittsburgh; Estados Unidos
Fil: Hysi, Pirro G.. King's College London; Reino Unido
Fil: De Jong, Markus A.. Erasmus University Medical Center; Países Bajos. Leiden University. Leiden University Medical Center.; Países Bajos
Fil: Zhu, Gu. QIMR Berghofer Medical Research Institute; Australia
Fil: Adhikar, Kaustubh. Colegio Universitario de Londres; Reino Unido
Fil: Li, Dan. Chinese Academy of Sciences; República de China
Fil: Li, Yi. University of Chinese Academy of Sciences; China
Fil: Pan, Bo. Plastic Surgery Hospital. Department of Auricular Reconstruction; China
Fil: Feingold, Eleanor. University of Pittsburgh; Estados Unidos
Fil: Marazita, Mary L.. University of Pittsburgh; Estados Unidos
Fil: Shaffer, John R.. University of Pittsburgh; Estados Unidos
Fil: McAloney, Kerrie. QIMR Berghofer Medical Research Institute; Australia
Fil: Xu, Shuhua. Chinese Academy of Sciences; República de China. ShanghaiTech University; China
Fil: Jin, Li. Chinese Academy of Sciences; República de China. Fudan University. School of Life Sciences; China
Fil: Wang, Sijia. Chinese Academy of Sciences; República de China
Fil: De Vri, Femke M.. Erasmus University Medical Center; Países Bajos
Fil: Lendemeije, Bas. Erasmus University Medical Center; Países Bajos
Fil: Richmond, Stephen. Cardiff University; Reino Unido
Fil: Zhurov, Alexei. Cardiff University; Reino Unido
Fil: Lewis, Sarah. University of Bristol. Population Health Sciences. Medical Research Council Integrative Epidemiology Unit; Reino Unido
Fil: Sharp, Gemma. University of Bristol; Reino Unido
Fil: Paternoster, Lavinia. University of Bristol; Reino Unido
Fil: Thompson, Holly. University of Bristol; Reino Unido
Fil: Gonzalez-Jose, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina
Fil: Catira Bortolini, Maria. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Canizales-Quinteros, Samuel. Universidad Nacional Autónoma de México; México
Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia. Facultad de Ciencias y Filosofıa. Laboratorios de Investigacion y Desarrollo; Perú - Materia
-
LATIN AMERICANS
GWAS
FACIAL VARIATION - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/133216
Ver los metadatos del registro completo
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Novel genetic loci affecting facial shape variation in humansXiong, ZiyiDankova, GabrielaHowe, Laurence J.Lee, Myoung KeunHysi, Pirro G.De Jong, Markus A.Zhu, GuAdhikar, KaustubhLi, DanLi, YiPan, BoFeingold, EleanorMarazita, Mary L.Shaffer, John R.McAloney, KerrieXu, ShuhuaJin, LiWang, SijiaDe Vri, Femke M.Lendemeije, BasRichmond, StephenZhurov, AlexeiLewis, SarahSharp, GemmaPaternoster, LaviniaThompson, HollyGonzalez-Jose, RolandoCatira Bortolini, MariaCanizales-Quinteros, SamuelGallo, CarlaLATIN AMERICANSGWASFACIAL VARIATIONhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p<5x10-8), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7,917 individuals confirmed 10 loci including 6 unreported ones (padjusted<2.1x10-3). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies.Fil: Xiong, Ziyi. Erasmus University Medical Center; Países BajosFil: Dankova, Gabriela. Erasmus University Medical Center; Países BajosFil: Howe, Laurence J.. University Of Bristol; Reino UnidoFil: Lee, Myoung Keun. University of Pittsburgh; Estados UnidosFil: Hysi, Pirro G.. King's College London; Reino UnidoFil: De Jong, Markus A.. Erasmus University Medical Center; Países Bajos. Leiden University. Leiden University Medical Center.; Países BajosFil: Zhu, Gu. QIMR Berghofer Medical Research Institute; AustraliaFil: Adhikar, Kaustubh. Colegio Universitario de Londres; Reino UnidoFil: Li, Dan. Chinese Academy of Sciences; República de ChinaFil: Li, Yi. University of Chinese Academy of Sciences; ChinaFil: Pan, Bo. Plastic Surgery Hospital. Department of Auricular Reconstruction; ChinaFil: Feingold, Eleanor. University of Pittsburgh; Estados UnidosFil: Marazita, Mary L.. University of Pittsburgh; Estados UnidosFil: Shaffer, John R.. University of Pittsburgh; Estados UnidosFil: McAloney, Kerrie. QIMR Berghofer Medical Research Institute; AustraliaFil: Xu, Shuhua. Chinese Academy of Sciences; República de China. ShanghaiTech University; ChinaFil: Jin, Li. Chinese Academy of Sciences; República de China. Fudan University. School of Life Sciences; ChinaFil: Wang, Sijia. Chinese Academy of Sciences; República de ChinaFil: De Vri, Femke M.. Erasmus University Medical Center; Países BajosFil: Lendemeije, Bas. Erasmus University Medical Center; Países BajosFil: Richmond, Stephen. Cardiff University; Reino UnidoFil: Zhurov, Alexei. Cardiff University; Reino UnidoFil: Lewis, Sarah. University of Bristol. Population Health Sciences. Medical Research Council Integrative Epidemiology Unit; Reino UnidoFil: Sharp, Gemma. University of Bristol; Reino UnidoFil: Paternoster, Lavinia. University of Bristol; Reino UnidoFil: Thompson, Holly. University of Bristol; Reino UnidoFil: Gonzalez-Jose, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Catira Bortolini, Maria. Universidade Federal do Rio Grande do Sul; BrasilFil: Canizales-Quinteros, Samuel. Universidad Nacional Autónoma de México; MéxicoFil: Gallo, Carla. Universidad Peruana Cayetano Heredia. Facultad de Ciencias y Filosofıa. Laboratorios de Investigacion y Desarrollo; PerúeLife Sciences Publications Ltd2019-11info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/133216Xiong, Ziyi; Dankova, Gabriela; Howe, Laurence J.; Lee, Myoung Keun; Hysi, Pirro G.; et al.; Novel genetic loci affecting facial shape variation in humans; eLife Sciences Publications Ltd; eLife; 8; 11-20192050-084XCONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.7554/eLife.49898info:eu-repo/semantics/altIdentifier/url/https://elifesciences.org/articles/49898info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:57:32Zoai:ri.conicet.gov.ar:11336/133216instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:57:32.595CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
Novel genetic loci affecting facial shape variation in humans |
| title |
Novel genetic loci affecting facial shape variation in humans |
| spellingShingle |
Novel genetic loci affecting facial shape variation in humans Xiong, Ziyi LATIN AMERICANS GWAS FACIAL VARIATION |
| title_short |
Novel genetic loci affecting facial shape variation in humans |
| title_full |
Novel genetic loci affecting facial shape variation in humans |
| title_fullStr |
Novel genetic loci affecting facial shape variation in humans |
| title_full_unstemmed |
Novel genetic loci affecting facial shape variation in humans |
| title_sort |
Novel genetic loci affecting facial shape variation in humans |
| dc.creator.none.fl_str_mv |
Xiong, Ziyi Dankova, Gabriela Howe, Laurence J. Lee, Myoung Keun Hysi, Pirro G. De Jong, Markus A. Zhu, Gu Adhikar, Kaustubh Li, Dan Li, Yi Pan, Bo Feingold, Eleanor Marazita, Mary L. Shaffer, John R. McAloney, Kerrie Xu, Shuhua Jin, Li Wang, Sijia De Vri, Femke M. Lendemeije, Bas Richmond, Stephen Zhurov, Alexei Lewis, Sarah Sharp, Gemma Paternoster, Lavinia Thompson, Holly Gonzalez-Jose, Rolando Catira Bortolini, Maria Canizales-Quinteros, Samuel Gallo, Carla |
| author |
Xiong, Ziyi |
| author_facet |
Xiong, Ziyi Dankova, Gabriela Howe, Laurence J. Lee, Myoung Keun Hysi, Pirro G. De Jong, Markus A. Zhu, Gu Adhikar, Kaustubh Li, Dan Li, Yi Pan, Bo Feingold, Eleanor Marazita, Mary L. Shaffer, John R. McAloney, Kerrie Xu, Shuhua Jin, Li Wang, Sijia De Vri, Femke M. Lendemeije, Bas Richmond, Stephen Zhurov, Alexei Lewis, Sarah Sharp, Gemma Paternoster, Lavinia Thompson, Holly Gonzalez-Jose, Rolando Catira Bortolini, Maria Canizales-Quinteros, Samuel Gallo, Carla |
| author_role |
author |
| author2 |
Dankova, Gabriela Howe, Laurence J. Lee, Myoung Keun Hysi, Pirro G. De Jong, Markus A. Zhu, Gu Adhikar, Kaustubh Li, Dan Li, Yi Pan, Bo Feingold, Eleanor Marazita, Mary L. Shaffer, John R. McAloney, Kerrie Xu, Shuhua Jin, Li Wang, Sijia De Vri, Femke M. Lendemeije, Bas Richmond, Stephen Zhurov, Alexei Lewis, Sarah Sharp, Gemma Paternoster, Lavinia Thompson, Holly Gonzalez-Jose, Rolando Catira Bortolini, Maria Canizales-Quinteros, Samuel Gallo, Carla |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
LATIN AMERICANS GWAS FACIAL VARIATION |
| topic |
LATIN AMERICANS GWAS FACIAL VARIATION |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/1.6 https://purl.org/becyt/ford/1 |
| dc.description.none.fl_txt_mv |
The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p<5x10-8), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7,917 individuals confirmed 10 loci including 6 unreported ones (padjusted<2.1x10-3). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies. Fil: Xiong, Ziyi. Erasmus University Medical Center; Países Bajos Fil: Dankova, Gabriela. Erasmus University Medical Center; Países Bajos Fil: Howe, Laurence J.. University Of Bristol; Reino Unido Fil: Lee, Myoung Keun. University of Pittsburgh; Estados Unidos Fil: Hysi, Pirro G.. King's College London; Reino Unido Fil: De Jong, Markus A.. Erasmus University Medical Center; Países Bajos. Leiden University. Leiden University Medical Center.; Países Bajos Fil: Zhu, Gu. QIMR Berghofer Medical Research Institute; Australia Fil: Adhikar, Kaustubh. Colegio Universitario de Londres; Reino Unido Fil: Li, Dan. Chinese Academy of Sciences; República de China Fil: Li, Yi. University of Chinese Academy of Sciences; China Fil: Pan, Bo. Plastic Surgery Hospital. Department of Auricular Reconstruction; China Fil: Feingold, Eleanor. University of Pittsburgh; Estados Unidos Fil: Marazita, Mary L.. University of Pittsburgh; Estados Unidos Fil: Shaffer, John R.. University of Pittsburgh; Estados Unidos Fil: McAloney, Kerrie. QIMR Berghofer Medical Research Institute; Australia Fil: Xu, Shuhua. Chinese Academy of Sciences; República de China. ShanghaiTech University; China Fil: Jin, Li. Chinese Academy of Sciences; República de China. Fudan University. School of Life Sciences; China Fil: Wang, Sijia. Chinese Academy of Sciences; República de China Fil: De Vri, Femke M.. Erasmus University Medical Center; Países Bajos Fil: Lendemeije, Bas. Erasmus University Medical Center; Países Bajos Fil: Richmond, Stephen. Cardiff University; Reino Unido Fil: Zhurov, Alexei. Cardiff University; Reino Unido Fil: Lewis, Sarah. University of Bristol. Population Health Sciences. Medical Research Council Integrative Epidemiology Unit; Reino Unido Fil: Sharp, Gemma. University of Bristol; Reino Unido Fil: Paternoster, Lavinia. University of Bristol; Reino Unido Fil: Thompson, Holly. University of Bristol; Reino Unido Fil: Gonzalez-Jose, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Catira Bortolini, Maria. Universidade Federal do Rio Grande do Sul; Brasil Fil: Canizales-Quinteros, Samuel. Universidad Nacional Autónoma de México; México Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia. Facultad de Ciencias y Filosofıa. Laboratorios de Investigacion y Desarrollo; Perú |
| description |
The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p<5x10-8), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7,917 individuals confirmed 10 loci including 6 unreported ones (padjusted<2.1x10-3). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies. |
| publishDate |
2019 |
| dc.date.none.fl_str_mv |
2019-11 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
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article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/133216 Xiong, Ziyi; Dankova, Gabriela; Howe, Laurence J.; Lee, Myoung Keun; Hysi, Pirro G.; et al.; Novel genetic loci affecting facial shape variation in humans; eLife Sciences Publications Ltd; eLife; 8; 11-2019 2050-084X CONICET Digital CONICET |
| url |
http://hdl.handle.net/11336/133216 |
| identifier_str_mv |
Xiong, Ziyi; Dankova, Gabriela; Howe, Laurence J.; Lee, Myoung Keun; Hysi, Pirro G.; et al.; Novel genetic loci affecting facial shape variation in humans; eLife Sciences Publications Ltd; eLife; 8; 11-2019 2050-084X CONICET Digital CONICET |
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eng |
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eng |
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info:eu-repo/semantics/altIdentifier/doi/10.7554/eLife.49898 info:eu-repo/semantics/altIdentifier/url/https://elifesciences.org/articles/49898 |
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openAccess |
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eLife Sciences Publications Ltd |
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eLife Sciences Publications Ltd |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
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dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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