Standard polygenic risk scores capture overall genetic liability to coronary artery disease (CAD) but do not reveal the biological processes contributing to risk in an individual. Here, we applied data-driven latent factor decomposition to 526 genome-wide significant CAD-associated variants, using their associations wi...
J. Morze, K. Smith, M. Kierczak et al.· medRxiv· 0 citations
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
OBJECTIVE
To examine the clinical profile of patients with MEN syndromes and possible associations with tumors less commonly identified in these conditions.
METHODS
We present data from a chart review of 182 patients from our MEN registry. We identified 106 patients with MEN1 and 76 with MEN2 defined by clinical crit...
Clarissa C. Pedreira, Karen Olivar-Carreño, Shubhangi Tuli et al.· Endocrine Practice· 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
Higher coffee intake was associated with greater insulin sensitivity, lower visceral adiposity, and lower risk of T2D, and these findings suggest that insulin resistance and visceral adiposity-related pathways may contribute to the association between coffee intake and T2D risk.
Magdalena Sevilla-González, Xing-Yan Wang, H. Yun et al.· medRxiv· 0 citations
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