ArticleThe Journal of clinical endocrinology and metabolism2020
Genetic Architecture Associated With Familial Short Stature.
Article in The Journal of clinical endocrinology and metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Gene-based burden testing implicates four novel susceptibility genes associated with isolated short stature in pediatric patients.World journal of pediatrics : WJP · 2026Article
- Unraveling the genetic links between stature and disease in East Asians: A multi-biobank genetic correlation and risk prediction study.PLoS genetics · 2026Article
- Familial short stature: genetic architecture, risk stratification, and precision management.Frontiers in endocrinology · 2026Review
- Explainable predictive models of short stature and exploration of related environmental growth factors: a case-control study.BMC endocrine disorders · 2025Article
- Polygenic height prediction for the Han Chinese in Taiwan.NPJ genomic medicine · 2025Article
- COMT and Neuregulin 1 Markers for Personalized Treatment of Schizophrenia Spectrum Disorders Treated with Risperidone Monotherapy.Biomolecules · 2024Article
- Multiple polygenic risk scores can improve the prediction of systemic lupus erythematosus in Taiwan.Lupus science & medicine · 2024Article
- Your height affects your health: genetic determinants and health-related outcomes in Taiwan.BMC medicine · 2022Article
- Analysis of Prevalence, Influencing Factors, and Countermeasures of Short Stature in Children and Adolescents Aged 6∼14 in Furong District, Changsha City, in 2020.Evidence-based complementary and alternative medicine : eCAM · 2021Article
- Comparison of multiple imputation algorithms and verification using whole-genome sequencing in the CMUH genetic biobank.BioMedicine · 2021Article
- Genetic Regulation of Adult Stature in Humans.The Journal of clinical endocrinology and metabolism · 2020Article
- Deciphering short stature in children.Annals of pediatric endocrinology & metabolism · 2020Article
- Readdressing Short Stature in India: The "Long and the Short" of it.Indian journal of endocrinology and metabolismArticle
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16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextHuman 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.
objectiveTo investigate the FSS genetic profile and develop a polygenic risk predisposition score for FSS risk prediction. DESIGN AND
settingThe FSS participant group of Han Chinese ancestry was diagnosed by pediatric endocrinologists in Taiwan. PATIENTS AND
interventionsThe genetic profiles of 1163 participants with FSS were identified by using a bootstrapping subsampling and genome-wide association studies (GWAS) method.
main outcome measuresGenetic profile, polygenic risk predisposition score for risk prediction.
resultsTen 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.
conclusionA 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.
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