Height-reducing variants and selection for short stature in Sardinia.

doi:10.1038/ng.3403

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Article

Height-reducing variants and selection for short stature in Sardinia.

Nature genetics - 1 Nov 2015

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

Abstract excerpt

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...

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PMID: 26366551
DOI: 10.1038/ng.3403
PMCID: PMC4627578

Genes

GHR
KCNQ1
MAF

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