Hui-Qi Qu1, Jingchun Qu1, Joseph Glessner1,2,3, Yichuan Liu1, Frank Mentch1, Xiao Chang1, Michael March1, Jin Li4, Jeffrey D Roizen2, John J Connolly1, Patrick Sleiman1,2,3, Hakon Hakonarson1,2,3,5. 1. The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. 2. Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. 3. Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. 4. Department of Cell Biology, Tianjin Medical University, Tianjin, China. 5. Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Abstract
BACKGROUND: Precise risk prediction of type 1 diabetes (T1D) facilitates early intervention and identification of risk factors prior to irreversible beta-islet cell destruction, and can significantly improve T1D prevention and clinical care. Sharp et al. developed a genetic risk scoring (GRS) system for T1D (T1D-GRS2) capable of predicting T1D risk in children of European ancestry. The T1D-GRS2 was developed on the basis of causal genetic variants, thus may be applicable to minor populations, while a trans-ethnic GRS for T1D may avoid the exacerbation of health disparities due to the lack of genomic information in minorities. METHODS: Here, we describe a T1D-GRS2 calculator validated in two independent cohorts, including African American children and European American children. Participants were recruited by the Center for Applied Genomics at the Children's Hospital of Philadelphia. RESULTS: It demonstrates that GRS2 is applicable to the T1D risk prediction in the AA cohort, while population-specific thresholds are needed for different populations. CONCLUSIONS: The study highlights the potential to further improve T1D-GRS2 performance with the inclusion of additional genetic markers.
BACKGROUND: Precise risk prediction of type 1 diabetes (T1D) facilitates early intervention and identification of risk factors prior to irreversible beta-islet cell destruction, and can significantly improve T1D prevention and clinical care. Sharp et al. developed a genetic risk scoring (GRS) system for T1D (T1D-GRS2) capable of predicting T1D risk in children of European ancestry. The T1D-GRS2 was developed on the basis of causal genetic variants, thus may be applicable to minor populations, while a trans-ethnic GRS for T1D may avoid the exacerbation of health disparities due to the lack of genomic information in minorities. METHODS: Here, we describe a T1D-GRS2 calculator validated in two independent cohorts, including African American children and European American children. Participants were recruited by the Center for Applied Genomics at the Children's Hospital of Philadelphia. RESULTS: It demonstrates that GRS2 is applicable to the T1D risk prediction in the AA cohort, while population-specific thresholds are needed for different populations. CONCLUSIONS: The study highlights the potential to further improve T1D-GRS2 performance with the inclusion of additional genetic markers.
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