Vice-President Fuu-Jen Tsai’s Clinical Research Team Published their Study “Genetic Architecture Associated with Familial Short Stature” in The Journal of Clinical Endocrinology and Metabolism
Date：May 11, 2020
CMU Vice-President Dr. Fuu-Jen Tsai and his clinical research team has made a new discovery in the study for the genetics of familial short stature of Han Chinese ancestry in Taiwan. Their research finding, “Genetic Architecture Associated With Familial Short Stature”, has identified 10 novel genetic single nucleotide polymorphisms (SNPs) and 9 reported GWAS human height-related SNPs were related to the risk of familial short stature, and this research was published in May 2020 issue of The Journal of Clinical Endocrinology and Metabolism.
The participant group of this study included 1163 participants of Han Chinese ancestry that were diagnosed with familial short stature (FSS). The genetic profiles of the participants with FSS were identified by using a bootstrapping subsampling and genome-wide association studies (GWAS) method. The control group consist of 4168 individuals with no history of FSS, selected from the Taiwan Biobank and type 2 diabetes patients. A polygenic risk predisposition score for FSS risk prediction is developed by investigating the FSS genetic profile of the participant group and the control group.
“Human height is an inheritable, polygenic trait under complex and multilocus genetic regulations. One of the most difficult topic in the genetic research is height growth, because its influences are too complicated. Genetic predisposition to human height has been widely explored using GWAS in multi-ethnic populations. FSS is the most common type of short stature, but its genetic profile is insufficiently known,” said Dr. Tsai, who had profound experience in predicting children’s height by bone age assessment.
Short stature is defined as body height less than the third percentile or less than 2 standard deviations below the mean height for the corresponding age and gender according to the growth standards for height of the population. Since FSS can only be caused by genetic factors, there is a 90% accuracy of using genetic loci to predict whether a child has the risk of short stature. This research will be carried out for research of the human height prediction in the future, and for the investigation of the mechanism and control of human growth. With scientific research and proper treatment, there is hope that growing taller will become possible in the future.