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Height-reducing variants and selection for short stature in Sardinia
- 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
- Subjects :
- Male
Population genetics
Genome-wide association study
Body Height
Carrier Proteins
Founder Effect
Gene Frequency
Genome-Wide Association Study
Genotype
Haplotypes
High-Throughput Nucleotide Sequencing
KCNQ1 Potassium Channel
Laron Syndrome
Genetic Variation
Selection, Genetic
Genetics
0302 clinical medicine
80 and over
Haplotype
Longitudinal Studies
Non-U.S. Gov't
10. No inequality
Aged, 80 and over
Islands
0303 health sciences
Research Support, Non-U.S. Gov't
Middle Aged
Italy
Female
medicine.symptom
Adult
Biology
Research Support
Short stature
Article
N.I.H
03 medical and health sciences
Young Adult
Research Support, N.I.H., Extramural
Genetic
Genetic drift
Journal Article
medicine
Humans
Allele
Selection
Allele frequency
030304 developmental biology
Aged
Extramural
Minor allele frequency
Carrier Protein
030217 neurology & neurosurgery
Founder effect
Subjects
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