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    Type 1 Diabetes Genetic Risk Score: a novel tool to discriminate monogenic and type 1 diabetes.

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    URI
    http://hdl.handle.net/11287/610787
    Author
    Patel, Kashyap
    Oram, Richard A.
    Flanagan, Sarah
    De Franco, Elisa
    Colclough, Kevin
    Shepherd, Maggie
    Ellard, Sian
    Weedon, M. N.
    Hattersley, Andrew T.
    Date
    2016-04-05
    Journal
    Diabetes
    Type
    Journal Article
    Publisher
    American Diabetes Association
    DOI
    10.2337/db15-1690
    Rights
    Archived with thanks to Diabetes
    Metadata
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    Abstract
    Distinguishing patients with monogenic diabetes from Type 1 diabetes (T1D) is important for correct diagnosis, treatment and to select patients for gene discovery studies. We assessed whether a T1D genetic risk score (T1D-GRS) generated from T1D-associated common genetic variants provides a novel way to discriminate monogenic diabetes from T1D. The T1D-GRS was highly discriminative of proven MODY (n=805) and T1D (n=1963) (ROC-AUC=0.87). A T1D-GRS of >0.280 (>50(th) T1D centile) was indicative of T1D (94% specificity, 50% sensitivity). We then analyzed the T1D-GRS in 242 White-European patients with neonatal diabetes (NDM) who had been tested for all known neonatal diabetes genes. Monogenic NDM was confirmed in 90%, 59% and 8% in patients with GRS <5(th) T1D centile, 50-75(th) T1D centile and >75(th) T1D centile, respectively. Applying a GRS 50(th) T1D centile cut-off in 48 NDM patients with no known genetic cause, identified those most likely to have a novel monogenic etiology by highlighting patients with probable early-onset T1D (GRS >50(th) T1D centile) who were diagnosed later, had less syndromic presentation but had additional autoimmune features compared to proven monogenic NDM. The T1D-GRS is a novel tool to improve the use of biomarkers in the discrimination of monogenic diabetes from T1D.
    Citation
    Type 1 Diabetes Genetic Risk Score: a novel tool to discriminate monogenic and type 1 diabetes. 2016 Jul;65(7):2094-9: Diabetes
    Publisher URL
    http://diabetes.diabetesjournals.org/cgi/pmidlookup?view=long&pmid=27207547
    Collections
    • 2016 RD&E publications
    • Diabetes and endocrinology
    • Honorary contracts publications
    • Molecular Genetics

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