Genetic Architecture Associated With Familial Short Stature

Author:

Lin Ying-Ju12ORCID,Cheng Chi-Fung13,Wang Chung-Hsing4,Liang Wen-Miin3,Tang Chih-Hsin5,Tsai Li-Ping6,Chen Chien-Hsiun27,Wu Jer-Yuarn27,Hsieh Ai-Ru8,Lee Ming Ta Michael9,Lin Ting-Hsu1,Liao Chiu-Chu1,Huang Shao-Mei1,Zhang Yanfei9,Tsai Chang-Hai10,Tsai Fuu-Jen12410

Affiliation:

1. Genetic Center, Department of Medical Research, China Medical University Hospital, Taichung, Taiwan

2. School of Chinese Medicine, China Medical University, Taichung, Taiwan

3. Department of Health Services Administration, China Medical University, Taichung, Taiwan

4. Children’s Hospital of China Medical University, Taichung, Taiwan

5. Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan

6. Department of Pediatrics, Taipei Tzu Chi Hospital, New Taipei City, Taiwan

7. Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan

8. Department of Statistics, Tamkang University, New Taipei City, Taiwan

9. Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, USA

10. Department of Biotechnology and Bioinformatics, Asia University, Taichung, Taiwan

Abstract

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 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.

Funder

China Medical University

China Medical University Hospital

Ministry of Science and Technology, Taiwan

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

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