Título:
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Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
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Autores:
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Shaffer, John R. ;
Li, Jinxi ;
Lee, Myoung Keun ;
Roosenboom, Jasmien ;
Orlova, Ekaterina ;
Adhikari, Kaustabh ;
23andMe Research Team ;
Gallo, Carla ;
Poletti, Giovanni ;
Schuler-Faccini, Lavinia ;
Bortolini, Maria-Cátira ;
Canizales-Quinteros, Samuel ;
Rothhammer, Francisco ;
Bedoya, Gabriel ;
González-José, Rolando ;
Pfeffer, Paige E. ;
Wollenschlaeger, Christopher A. ;
Hecht, Jacqueline T. ;
Wehby, George L. ;
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.
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Tipo de documento:
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texto impreso
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Editorial:
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Elsevier, 2019-01-25T15:28:06Z
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Nota general:
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info:eu-repo/semantics/restrictedAccess
https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
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Idiomas:
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Inglés
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Palabras clave:
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Editados por otras instituciones
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Artículos
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Artículos en revistas indizadas
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Resumen:
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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
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En línea:
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http://doi.org/10.1016/j.ajhg.2017.10.001
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