학술논문
Height-reducing variants and selection for short stature in Sardinia
Document Type
Report
Author
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, Chris; Lyons, Robert; Angius, Andrea; Abecasis, Goncalo R.; Novembre, John; Schlessinger, David; Cucca, Francesco
Source
Nature Genetics. November 1, 2015, p1352, 7 p.
Subject
Language
English
ISSN
1061-4036
Abstract
Human height is a canonical complex trait under tight genetic control, with heritability of 80-90% (refs. 1,2). Although rare variants with strong effects have been reported in families with monogenic [...]
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
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