Height-reducing variants and selection for short stature in Sardinia.
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ABSTRACT:
SUBMITTER: Zoledziewska M
PROVIDER: S-EPMC4627578 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Publications
Height-reducing variants and selection for short stature in Sardinia.
Zoledziewska Magdalena M Sidore Carlo C Chiang Charleston W K CWK Sanna Serena S Mulas Antonella A Steri Maristella M Busonero Fabio F Marcus Joseph H JH Marongiu Michele M Maschio Andrea A Ortega Del Vecchyo Diego D Floris Matteo M Meloni Antonella A Delitala Alessandro A Concas Maria Pina MP Murgia Federico F Biino Ginevra G Vaccargiu Simona S Nagaraja Ramaiah R Lohmueller Kirk E KE Timpson Nicholas J NJ Soranzo Nicole N Tachmazidou Ioanna I Dedoussis George G Zeggini Eleftheria E Uzzau Sergio S Jones Chris C Lyons Robert R Angius Andrea A Abecasis Gonçalo R GR Novembre John J Schlessinger David D Cucca Francesco F
Nature genetics 20150914 11
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 <0.01% elsewhere) and in the homozygous state causes Laron syndrome involving short stature. We find that this variant reduces height in heterozygotes by an average of 4.2 cm ...[more]
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