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Height-reducing variants and selection for short stature in Sardinia

Authors :
Ioanna Tachmazidou
Ramaiah Nagaraja
Diego Ortega-Del Vecchyo
Nicholas J. Timpson
George Dedoussis
Maristella Steri
Fabio Busonero
Alessandro P Delitala
Ginevra Biino
Federico Murgia
Gonçalo R. Abecasis
Kirk E. Lohmueller
Charleston W. K. Chiang
John Novembre
Serena Sanna
Joseph Marcus
Robert H. Lyons
Antonella Mulas
Matteo Floris
Eleftheria Zeggini
Maria Pina Concas
Michele Marongiu
Andrea Maschio
Magdalena Zoledziewska
Simona Vaccargiu
Nicole Soranzo
Sergio Uzzau
Andrea Angius
Antonella Meloni
David Schlessinger
Carlo Sidore
Chris Jones
Francesco Cucca
Zoledziewska, Magdalena
Sidore, Carlo
Chiang, Charleston W. K.
Sanna, Serena
Mulas, Antonella
Steri, Maristella
Busonero, Fabio
Marcus, Joseph H.
Marongiu, Michele
Maschio, Andrea
Del Vecchyo, Diego Ortega
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, Chri
Lyons, Robert
Angius, Andrea
Abecasis, Goncalo R.
Novembre, John
Schlessinger, David
Cucca, Francesco
Faculteit Medische Wetenschappen/UMCG
Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)
Source :
Nature genetics, Nature Genetics, 47(11), 1352-1356. Nature Publishing Group
Publication Year :
2015

Abstract

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 identify two variants with large effects. One variant, which introduces a stop codon in the GHR gene, is relatively frequent in Sardinia (0.87% versus

Details

Language :
English
ISSN :
10614036
Database :
OpenAIRE
Journal :
Nature genetics, Nature Genetics, 47(11), 1352-1356. Nature Publishing Group
Accession number :
edsair.doi.dedup.....a52ff09ca87498ae6c2fa82ffbb50236