Genetic architecture associated with familial short stature
Creators
- 1. China Medical University
- 2. Buddhist Tzu Chi General Hospital
- 3. Academia Sinica
- 4. Geisinger Health System
- 5. China Medical University Hospital
- 6. Asia Pacific International University
Description
Context
Human height is an inheritable, polygenic trait under complex and multi-locus 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 case group of Han Chinese ancestry was diagnosed by pediatric endocrinologists in Taiwan.
Patients and Interventions
The genetic profile of 1,163 FSS cases was identified by using a bootstrapping sub-sampling and genome-wide association studies (GWAS) method.
Main Outcome Measures
Genetic profile, polygenic risk predisposition score for risk prediction.
Results
Ten novel genetic 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 curve (AUC): 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.
Notes
Funding provided by: China Medical University
Crossref Funder Registry ID: http://dx.doi.org/10.13039/501100007300
Award Number: CMU108-MF-32
Funding provided by: China Medical University
Crossref Funder Registry ID: http://dx.doi.org/10.13039/501100007300
Award Number: CMU108-S-15
Funding provided by: China Medical University
Crossref Funder Registry ID: http://dx.doi.org/10.13039/501100007300
Award Number: CMU108-S-17
Funding provided by: China Medical University Hospital
Crossref Funder Registry ID: http://dx.doi.org/10.13039/501100004391
Award Number: DMR-109-145
Funding provided by: China Medical University Hospital
Crossref Funder Registry ID: http://dx.doi.org/10.13039/501100004391
Award Number: DMR-109-188
Funding provided by: China Medical University Hospital
Crossref Funder Registry ID: http://dx.doi.org/10.13039/501100004391
Award Number: DMR-109-192
Funding provided by: Ministry of Science and Technology
Crossref Funder Registry ID: http://dx.doi.org/10.13039/501100003711
Award Number: MOST 105-2314-B-039 -037 -MY3
Funding provided by: Ministry of Science and Technology
Crossref Funder Registry ID: http://dx.doi.org/10.13039/501100003711
Award Number: MOST 106-2320-B-039 -017 -MY3
Funding provided by: Ministry of Science and Technology
Crossref Funder Registry ID: http://dx.doi.org/10.13039/501100003711
Award Number: MOST 108-2314-B-039-044-MY3
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Additional details
Related works
- Is cited by
- 10.1210/clinem/dgaa131 (DOI)