Height-reducing variants and selection for short stature in Sardinia

We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identified two variants with large effects. One is a stop codon in the GHR gene, relatively frequent in Sardinia (0.87% vs &l...

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Detalles Bibliográficos
Autores principales: Zoledziewska, Magdalena, Sidore, Carlo, Chiang, Charleston W. K., Sanna, Serena, Mulas, Antonella, Steri, Maristella, Busonero, Fabio, Marcus, Joseph H., Marongiu, Michele, Maschio, Andrea, Ortega Del Vecchyo, Diego, Floris, Matteo, Meloni, Antonella, Delitala, Alessandro, Concas, Maria Pina, Murgia, Federico, Biino, Ginevra, Vaccargiu, Simona, Nagaraja, Ramaiah, Lohmueller, Kirk E., Timpson, Nicholas J., Soranzo, Nicole, Tachmazidou, Ioanna, Dedoussis, George, Zeggini, Eleftheria, Uzzau, Sergio, Jones, Chris, Lyons, Robert, Angius, Andrea, Abecasis, Gonçalo R., Novembre, John, Schlessinger, David, Cucca, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627578/
https://www.ncbi.nlm.nih.gov/pubmed/26366551
http://dx.doi.org/10.1038/ng.3403

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