Genetic Architecture Associated With Familial Short Stature.
J Clin Endocrinol Metab
; 105(6)2020 06 01.
Article
en En
| MEDLINE
| ID: mdl-32170311
ABSTRACT
CONTEXT Human height is an inheritable, polygenic trait under complex and multilocus genetic regulation. Familial short stature (FSS; also called genetic short stature) is the most common type of short stature and is insufficiently known. OBJECTIVE:
To investigate the FSS genetic profile and develop a polygenic risk predisposition score for FSS risk prediction. DESIGN ANDSETTING:
The FSS participant group of Han Chinese ancestry was diagnosed by pediatric endocrinologists in Taiwan. PATIENTS ANDINTERVENTIONS:
The genetic profiles of 1163 participants with FSS were identified by using a bootstrapping subsampling and genome-wide association studies (GWAS) method. MAIN OUTCOMEMEASURES:
Genetic profile, polygenic risk predisposition score for risk prediction.RESULTS:
Ten novel genetic single nucleotide polymorphisms (SNPs) and 9 reported GWAS human height-related SNPs were identified for FSS risk. These 10 novel SNPs served as a polygenic risk predisposition score for FSS risk prediction (area under the curve 0.940 in the testing group). This FSS polygenic risk predisposition score was also associated with the height reduction regression tendency in the general population.CONCLUSION:
A polygenic risk predisposition score composed of 10 genetic SNPs is useful for FSS risk prediction and the height reduction tendency. Thus, it might contribute to FSS risk in the Han Chinese population from Taiwan.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Estatura
/
Biomarcadores
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Herencia Multifactorial
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Polimorfismo de Nucleótido Simple
/
Enanismo
/
Estudio de Asociación del Genoma Completo
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
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Humans
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Male
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Middle aged
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Clin Endocrinol Metab
Año:
2020
Tipo del documento:
Article
País de afiliación:
Taiwán