Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning

Henry Sung Ching Wong, Ying Ju Lin, Hsing Fang Lu, Wen Ling Liao, Chien Hsiun Chen, Jer Yuarn Wu, Wei Chiao Chang, Fuu Jen Tsai

研究成果: 雜誌貢獻文章


Background: Genetic factors, dysregulation in the endocrine system, cytokine and paracrine factors are implicated in the pathogenesis of familial short stature (FSS). Nowadays, the treatment choice for FSS is limited, with only recombinant human growth hormone (rhGH) being available. Methods: Herein, starting from the identification of 122 genetic loci related to FSS, we adopted a genetic-driven drug discovery bioinformatics pipeline based on functional annotation to prioritize crucial biological FSS-related genes. These genes were suggested to be potential targets for therapeutics. Results: We discovered five druggable subnetworks, which contained seven FSS-related genes and 17 druggable targerts. Conclusions: This study provides a valuable drug repositioning accompanied by corresponding targetable gene clusters for FSS therapy.
期刊Journal of Biomedical Science
出版狀態已發佈 - 十一月 7 2019


ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Molecular Biology
  • Clinical Biochemistry
  • Cell Biology
  • Biochemistry, medical
  • Pharmacology (medical)