Aims/Hypothesis: Atypical forms of diabetes often provide diagnostic challenges and are suboptimally treated. We sought to determine whether type 1 and 2 diabetes polygenic scores (PS) would help improve classification of islet autoantibody-negative (IAb-) atypical diabetes cases. Methods: We implemented type 1 diabete...
Steven D. Gage, R. Kreienkamp, Aaron J. Deutsch et al.· medRxiv· 0 citations
Familial hypocalciuric hypercalcemia type 1 (FHH1), caused by inactivating CASR variants, is characterized by lifelong hypercalcemia and hypocalciuria and should be distinguished from primary hyperparathyroidism as their management differs substantially. Prior reports suggest additional clinical associations (e.g., pan...
N. Charoenngam, A. Huerta-Chagoya, Sarah Hsu et al.· Journal of Bone and Mineral...· 0 citations
Most polygenic scores (PS) for type 1 diabetes were developed using European (EUR) ancestry datasets, limiting performance in non-European (non-EUR) populations. We evaluated novel type 1 diabetes PS across diverse populations to assess whether newer models improve prediction in underrepresented populations. Seven type...
Stella Nam, R. Kreienkamp, Jiang Li et al.· medRxiv· 0 citations
