Genetic Architecture Associated With Familial Short Stature

Autor: Chang Hai Tsai, Chiu-Chu Liao, Li-Ping Tsai, Ming Ta Michael Lee, Jer-Yuarn Wu, Shao-Mei Huang, Wen Miin Liang, Fuu Jen Tsai, Ai-Ru Hsieh, Yanfei Zhang, Chih-Hsin Tang, Chung Hsing Wang, Ting-Hsu Lin, Ying Ju Lin, Chi-Fung Cheng, Chien-Hsiun Chen
Rok vydání: 2020
Předmět:
Male
0301 basic medicine
Multifactorial Inheritance
Endocrinology
Diabetes and Metabolism
Clinical Biochemistry
fibrillin 1
Genome-wide association study
Biochemistry
0302 clinical medicine
Endocrinology
Invited Commentary
education.field_of_study
Middle Aged
Prognosis
030220 oncology & carcinogenesis
Female
medicine.symptom
AcademicSubjects/MED00250
medicine.medical_specialty
Genotype
Population
Taiwan
Dwarfism
Single-nucleotide polymorphism
Context (language use)
Polymorphism
Single Nucleotide
Short stature
03 medical and health sciences
Internal medicine
medicine
Humans
Genetic Predisposition to Disease
Human height
education
Genetic association
business.industry
Biochemistry (medical)
Body Height
Genetic architecture
030104 developmental biology
Case-Control Studies
growth hormone
business
genetic regulation of stature
Biomarkers
Follow-Up Studies
Genome-Wide Association Study
height
Demography
Zdroj: The Journal of Clinical Endocrinology and Metabolism
ISSN: 1945-7197
0021-972X
Popis: 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 and Setting The FSS participant group of Han Chinese ancestry was diagnosed by pediatric endocrinologists in Taiwan. Patients and Interventions The genetic profiles of 1163 participants with FSS were identified by using a bootstrapping subsampling and genome-wide association studies (GWAS) method. Main Outcome Measures 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.
Databáze: OpenAIRE
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