Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment

Autores: Shaffer, John R.; Li, Jinxi; Lee, Myoung Keun; Roosenboom, Jasmien; Orlova, Ekaterina; Adhikari, Kaustabh; Gallo, Carla; Poletti, Giovanni; Schuler Faccini, Lavinia; Bortolini, Maria Catira; Canizales Quinteros, Samuel; Rothhammer, Francisco; Bedoya, Gabriel; González José, Rolando; Pfeffer, Paige E.; Wollenschlaeger, Christopher A.; Hecht, Jacqueline T.; Wehby, George; Moreno, Lina M.; Ding, Anan; Jin, Li; Yang, Yajun; Carlson, Jenna C.; Leslie, Elizabeth J.; Feingold, Eleanor; Marazita, Mary L.; Hinds, David A.; Cox, Timothy C.; Wang, Sijia; Ruiz Linares, Andrés; Weinberg, Seth M.
Año de publicación: 2017
Idioma: inglés
Tipo de recurso: artículo
Estado: versión publicada
Descripción: The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses are still lacking. Here, we performed a genome-wide association study of lobe attachment in a multiethnic sample of 74,660 individuals from four cohorts (three with the trait scored by an expert rater and one with the trait self-reported). Meta-analysis of the three expert-rater-scored cohorts revealed six associated loci harboring numerous candidate genes, including EDAR, SP5, MRPS22, ADGRG6 (GPR126), KIAA1217, and PAX9. The large self-reported 23andMe cohort recapitulated each of these six loci. Moreover, meta-analysis across all four cohorts revealed a total of 49 significant (p < 5 × 10−8) loci. Annotation and enrichment analyses of these 49 loci showed strong evidence of genes involved in ear development and syndromes with auricular phenotypes. RNA sequencing data from both human fetal ear and mouse second branchial arch tissue confirmed that genes located among associated loci showed evidence of expression. These results provide strong evidence for the polygenic nature of earlobe attachment and offer insights into the biological basis of normal and abnormal ear development.
Fil: Shaffer, John R.. University of Pittsburgh; Estados Unidos
Fil: Li, Jinxi. University of Chinese Academy of Sciences; China
Fil: Lee, Myoung Keun. University of Pittsburgh; Estados Unidos
Fil: Roosenboom, Jasmien. University of Pittsburgh; Estados Unidos
Fil: Orlova, Ekaterina. University of Pittsburgh; Estados Unidos
Fil: Adhikari, Kaustabh. Colegio Universitario de Londres; Reino Unido
Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú
Fil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; Perú
Fil: Schuler Faccini, Lavinia. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Canizales Quinteros, Samuel. Universidad Nacional Autónoma de México; México
Fil: Rothhammer, Francisco. Universidad de Tarapacá; Chile
Fil: Bedoya, Gabriel. Universidad de Antioquia; Colombia
Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina
Fil: Pfeffer, Paige E.. Saint Louis University; Estados Unidos
Fil: Wollenschlaeger, Christopher A.. University of Pittsburgh; Estados Unidos
Fil: Hecht, Jacqueline T.. University of Texas; Estados Unidos
Fil: Wehby, George. University of Iowa; Estados Unidos
Fil: Moreno, Lina M.. University of Iowa; Estados Unidos
Fil: Ding, Anan. University of Chinese Academy of Sciences; China
Fil: Jin, Li. University of Chinese Academy of Sciences; China. Fudan University; China
Fil: Yang, Yajun. Fudan University; China
Fil: Carlson, Jenna C.. University of Pittsburgh; Estados Unidos
Fil: Leslie, Elizabeth J.. University of Pittsburgh; Estados Unidos
Fil: Feingold, Eleanor. University of Pittsburgh; Estados Unidos
Fil: Marazita, Mary L.. University of Pittsburgh; Estados Unidos
Fil: Hinds, David A.. 899 West Evelyn Avenue; Estados Unidos
Fil: Cox, Timothy C.. Seattle Children’s Research Institute; Estados Unidos. University of Washington; Estados Unidos. Monash University; Australia
Fil: Wang, Sijia. University of Chinese Academy of Sciences; China. Fudan University; China
Fil: Ruiz Linares, Andrés. Colegio Universitario de Londres; Reino Unido. Fudan University; China. Aix-Marseille University; Francia
Fil: Weinberg, Seth M.. University of Pittsburgh; Estados Unidos
Materia: ATTACHED EARLOBE
COMPLEX TRAIT GENETICS
EPISTASIS
GENOME-WIDE ASSOCIATION STUDY
MULTIGENIC
PHARYNGEAL ARCH
PINNA
TRANS-ETHNIC
UNATTACHED EARLOBE
Nivel de accesibilidad: acceso abierto
Condiciones de uso: https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
Institución: Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador: oai:ri.conicet.gov.ar:11336/40052

Acceder

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repository_id_str	3498
network_name_str	CONICET Digital (CONICET)
spelling	Multiethnic GWAS Reveals Polygenic Architecture of Earlobe AttachmentShaffer, John R.Li, JinxiLee, Myoung KeunRoosenboom, JasmienOrlova, EkaterinaAdhikari, KaustabhGallo, CarlaPoletti, GiovanniSchuler Faccini, LaviniaBortolini, Maria CatiraCanizales Quinteros, SamuelRothhammer, FranciscoBedoya, GabrielGonzález José, RolandoPfeffer, Paige E.Wollenschlaeger, Christopher A.Hecht, Jacqueline T.Wehby, GeorgeMoreno, Lina M.Ding, AnanJin, LiYang, YajunCarlson, Jenna C.Leslie, Elizabeth J.Feingold, EleanorMarazita, Mary L.Hinds, David A.Cox, Timothy C.Wang, SijiaRuiz Linares, AndrésWeinberg, Seth M.ATTACHED EARLOBECOMPLEX TRAIT GENETICSEPISTASISGENOME-WIDE ASSOCIATION STUDYMULTIGENICPHARYNGEAL ARCHPINNATRANS-ETHNICUNATTACHED EARLOBEhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses are still lacking. Here, we performed a genome-wide association study of lobe attachment in a multiethnic sample of 74,660 individuals from four cohorts (three with the trait scored by an expert rater and one with the trait self-reported). Meta-analysis of the three expert-rater-scored cohorts revealed six associated loci harboring numerous candidate genes, including EDAR, SP5, MRPS22, ADGRG6 (GPR126), KIAA1217, and PAX9. The large self-reported 23andMe cohort recapitulated each of these six loci. Moreover, meta-analysis across all four cohorts revealed a total of 49 significant (p < 5 × 10−8) loci. Annotation and enrichment analyses of these 49 loci showed strong evidence of genes involved in ear development and syndromes with auricular phenotypes. RNA sequencing data from both human fetal ear and mouse second branchial arch tissue confirmed that genes located among associated loci showed evidence of expression. These results provide strong evidence for the polygenic nature of earlobe attachment and offer insights into the biological basis of normal and abnormal ear development.Fil: Shaffer, John R.. University of Pittsburgh; Estados UnidosFil: Li, Jinxi. University of Chinese Academy of Sciences; ChinaFil: Lee, Myoung Keun. University of Pittsburgh; Estados UnidosFil: Roosenboom, Jasmien. University of Pittsburgh; Estados UnidosFil: Orlova, Ekaterina. University of Pittsburgh; Estados UnidosFil: Adhikari, Kaustabh. Colegio Universitario de Londres; Reino UnidoFil: Gallo, Carla. Universidad Peruana Cayetano Heredia; PerúFil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; PerúFil: Schuler Faccini, Lavinia. Universidade Federal do Rio Grande do Sul; BrasilFil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; BrasilFil: Canizales Quinteros, Samuel. Universidad Nacional Autónoma de México; MéxicoFil: Rothhammer, Francisco. Universidad de Tarapacá; ChileFil: Bedoya, Gabriel. Universidad de Antioquia; ColombiaFil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Pfeffer, Paige E.. Saint Louis University; Estados UnidosFil: Wollenschlaeger, Christopher A.. University of Pittsburgh; Estados UnidosFil: Hecht, Jacqueline T.. University of Texas; Estados UnidosFil: Wehby, George. University of Iowa; Estados UnidosFil: Moreno, Lina M.. University of Iowa; Estados UnidosFil: Ding, Anan. University of Chinese Academy of Sciences; ChinaFil: Jin, Li. University of Chinese Academy of Sciences; China. Fudan University; ChinaFil: Yang, Yajun. Fudan University; ChinaFil: Carlson, Jenna C.. University of Pittsburgh; Estados UnidosFil: Leslie, Elizabeth J.. University of Pittsburgh; Estados UnidosFil: Feingold, Eleanor. University of Pittsburgh; Estados UnidosFil: Marazita, Mary L.. University of Pittsburgh; Estados UnidosFil: Hinds, David A.. 899 West Evelyn Avenue; Estados UnidosFil: Cox, Timothy C.. Seattle Children’s Research Institute; Estados Unidos. University of Washington; Estados Unidos. Monash University; AustraliaFil: Wang, Sijia. University of Chinese Academy of Sciences; China. Fudan University; ChinaFil: Ruiz Linares, Andrés. Colegio Universitario de Londres; Reino Unido. Fudan University; China. Aix-Marseille University; FranciaFil: Weinberg, Seth M.. University of Pittsburgh; Estados UnidosCell Press2017-12info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/40052Shaffer, John R.; Li, Jinxi; Lee, Myoung Keun; Roosenboom, Jasmien; Orlova, Ekaterina; et al.; Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment; Cell Press; American Journal Of Human Genetics; 101; 6; 12-2017; 913-9240002-9297CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2017.10.001info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:35:14Zoai:ri.conicet.gov.ar:11336/40052instacron: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 10:35:14.947CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv	Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
title	Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
spellingShingle	Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment Shaffer, John R. ATTACHED EARLOBE COMPLEX TRAIT GENETICS EPISTASIS GENOME-WIDE ASSOCIATION STUDY MULTIGENIC PHARYNGEAL ARCH PINNA TRANS-ETHNIC UNATTACHED EARLOBE
title_short	Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
title_full	Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
title_fullStr	Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
title_full_unstemmed	Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
title_sort	Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
dc.creator.none.fl_str_mv	Shaffer, John R. Li, Jinxi Lee, Myoung Keun Roosenboom, Jasmien Orlova, Ekaterina Adhikari, Kaustabh Gallo, Carla Poletti, Giovanni Schuler Faccini, Lavinia Bortolini, Maria Catira Canizales Quinteros, Samuel Rothhammer, Francisco Bedoya, Gabriel González José, Rolando Pfeffer, Paige E. Wollenschlaeger, Christopher A. Hecht, Jacqueline T. Wehby, George Moreno, Lina M. Ding, Anan Jin, Li Yang, Yajun Carlson, Jenna C. Leslie, Elizabeth J. Feingold, Eleanor Marazita, Mary L. Hinds, David A. Cox, Timothy C. Wang, Sijia Ruiz Linares, Andrés Weinberg, Seth M.
author	Shaffer, John R.
author_facet	Shaffer, John R. Li, Jinxi Lee, Myoung Keun Roosenboom, Jasmien Orlova, Ekaterina Adhikari, Kaustabh Gallo, Carla Poletti, Giovanni Schuler Faccini, Lavinia Bortolini, Maria Catira Canizales Quinteros, Samuel Rothhammer, Francisco Bedoya, Gabriel González José, Rolando Pfeffer, Paige E. Wollenschlaeger, Christopher A. Hecht, Jacqueline T. Wehby, George Moreno, Lina M. Ding, Anan Jin, Li Yang, Yajun Carlson, Jenna C. Leslie, Elizabeth J. Feingold, Eleanor Marazita, Mary L. Hinds, David A. Cox, Timothy C. Wang, Sijia Ruiz Linares, Andrés Weinberg, Seth M.
author_role	author
author2	Li, Jinxi Lee, Myoung Keun Roosenboom, Jasmien Orlova, Ekaterina Adhikari, Kaustabh Gallo, Carla Poletti, Giovanni Schuler Faccini, Lavinia Bortolini, Maria Catira Canizales Quinteros, Samuel Rothhammer, Francisco Bedoya, Gabriel González José, Rolando Pfeffer, Paige E. Wollenschlaeger, Christopher A. Hecht, Jacqueline T. Wehby, George Moreno, Lina M. Ding, Anan Jin, Li Yang, Yajun Carlson, Jenna C. Leslie, Elizabeth J. Feingold, Eleanor Marazita, Mary L. Hinds, David A. Cox, Timothy C. Wang, Sijia Ruiz Linares, Andrés Weinberg, Seth M.
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 author
dc.subject.none.fl_str_mv	ATTACHED EARLOBE COMPLEX TRAIT GENETICS EPISTASIS GENOME-WIDE ASSOCIATION STUDY MULTIGENIC PHARYNGEAL ARCH PINNA TRANS-ETHNIC UNATTACHED EARLOBE
topic	ATTACHED EARLOBE COMPLEX TRAIT GENETICS EPISTASIS GENOME-WIDE ASSOCIATION STUDY MULTIGENIC PHARYNGEAL ARCH PINNA TRANS-ETHNIC UNATTACHED EARLOBE
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 genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses are still lacking. Here, we performed a genome-wide association study of lobe attachment in a multiethnic sample of 74,660 individuals from four cohorts (three with the trait scored by an expert rater and one with the trait self-reported). Meta-analysis of the three expert-rater-scored cohorts revealed six associated loci harboring numerous candidate genes, including EDAR, SP5, MRPS22, ADGRG6 (GPR126), KIAA1217, and PAX9. The large self-reported 23andMe cohort recapitulated each of these six loci. Moreover, meta-analysis across all four cohorts revealed a total of 49 significant (p < 5 × 10−8) loci. Annotation and enrichment analyses of these 49 loci showed strong evidence of genes involved in ear development and syndromes with auricular phenotypes. RNA sequencing data from both human fetal ear and mouse second branchial arch tissue confirmed that genes located among associated loci showed evidence of expression. These results provide strong evidence for the polygenic nature of earlobe attachment and offer insights into the biological basis of normal and abnormal ear development. Fil: Shaffer, John R.. University of Pittsburgh; Estados Unidos Fil: Li, Jinxi. University of Chinese Academy of Sciences; China Fil: Lee, Myoung Keun. University of Pittsburgh; Estados Unidos Fil: Roosenboom, Jasmien. University of Pittsburgh; Estados Unidos Fil: Orlova, Ekaterina. University of Pittsburgh; Estados Unidos Fil: Adhikari, Kaustabh. Colegio Universitario de Londres; Reino Unido Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú Fil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; Perú Fil: Schuler Faccini, Lavinia. Universidade Federal do Rio Grande do Sul; Brasil Fil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil Fil: Canizales Quinteros, Samuel. Universidad Nacional Autónoma de México; México Fil: Rothhammer, Francisco. Universidad de Tarapacá; Chile Fil: Bedoya, Gabriel. Universidad de Antioquia; Colombia Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Pfeffer, Paige E.. Saint Louis University; Estados Unidos Fil: Wollenschlaeger, Christopher A.. University of Pittsburgh; Estados Unidos Fil: Hecht, Jacqueline T.. University of Texas; Estados Unidos Fil: Wehby, George. University of Iowa; Estados Unidos Fil: Moreno, Lina M.. University of Iowa; Estados Unidos Fil: Ding, Anan. University of Chinese Academy of Sciences; China Fil: Jin, Li. University of Chinese Academy of Sciences; China. Fudan University; China Fil: Yang, Yajun. Fudan University; China Fil: Carlson, Jenna C.. University of Pittsburgh; Estados Unidos Fil: Leslie, Elizabeth J.. University of Pittsburgh; Estados Unidos Fil: Feingold, Eleanor. University of Pittsburgh; Estados Unidos Fil: Marazita, Mary L.. University of Pittsburgh; Estados Unidos Fil: Hinds, David A.. 899 West Evelyn Avenue; Estados Unidos Fil: Cox, Timothy C.. Seattle Children’s Research Institute; Estados Unidos. University of Washington; Estados Unidos. Monash University; Australia Fil: Wang, Sijia. University of Chinese Academy of Sciences; China. Fudan University; China Fil: Ruiz Linares, Andrés. Colegio Universitario de Londres; Reino Unido. Fudan University; China. Aix-Marseille University; Francia Fil: Weinberg, Seth M.. University of Pittsburgh; Estados Unidos
description	The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses are still lacking. Here, we performed a genome-wide association study of lobe attachment in a multiethnic sample of 74,660 individuals from four cohorts (three with the trait scored by an expert rater and one with the trait self-reported). Meta-analysis of the three expert-rater-scored cohorts revealed six associated loci harboring numerous candidate genes, including EDAR, SP5, MRPS22, ADGRG6 (GPR126), KIAA1217, and PAX9. The large self-reported 23andMe cohort recapitulated each of these six loci. Moreover, meta-analysis across all four cohorts revealed a total of 49 significant (p < 5 × 10−8) loci. Annotation and enrichment analyses of these 49 loci showed strong evidence of genes involved in ear development and syndromes with auricular phenotypes. RNA sequencing data from both human fetal ear and mouse second branchial arch tissue confirmed that genes located among associated loci showed evidence of expression. These results provide strong evidence for the polygenic nature of earlobe attachment and offer insights into the biological basis of normal and abnormal ear development.
publishDate	2017
dc.date.none.fl_str_mv	2017-12
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
format	article
status_str	publishedVersion
dc.identifier.none.fl_str_mv	http://hdl.handle.net/11336/40052 Shaffer, John R.; Li, Jinxi; Lee, Myoung Keun; Roosenboom, Jasmien; Orlova, Ekaterina; et al.; Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment; Cell Press; American Journal Of Human Genetics; 101; 6; 12-2017; 913-924 0002-9297 CONICET Digital CONICET
url	http://hdl.handle.net/11336/40052
identifier_str_mv	Shaffer, John R.; Li, Jinxi; Lee, Myoung Keun; Roosenboom, Jasmien; Orlova, Ekaterina; et al.; Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment; Cell Press; American Journal Of Human Genetics; 101; 6; 12-2017; 913-924 0002-9297 CONICET Digital CONICET
dc.language.none.fl_str_mv	eng
language	eng
dc.relation.none.fl_str_mv	info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2017.10.001
dc.rights.none.fl_str_mv	info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv	openAccess
rights_invalid_str_mv	https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv	application/pdf application/pdf
dc.publisher.none.fl_str_mv	Cell Press
publisher.none.fl_str_mv	Cell Press
dc.source.none.fl_str_mv	reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str	CONICET Digital (CONICET)
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instname_str	Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv	CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv	dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment

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