Article
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.
Nature metabolism - 1 Oct 2020
Bonnefond Amélie, Boissel Mathilde, Bolze Alexandre, Durand Emmanuelle, Toussaint Bénédicte, Vaillant Emmanuel, Gaget Stefan, Graeve Franck De, Dechaume Aurélie, Allegaert Frédéric, Guilcher David Le, Yengo Loïc, Dhennin Véronique, Borys Jean-Michel, Lu James T, Cirulli Elizabeth T, Elhanan Gai, Roussel Ronan, Balkau Beverley, Marre Michel, Franc Sylvia, Charpentier Guillaume, Vaxillaire Martine, Canouil Mickaël, Washington Nicole L, Grzymski Joseph J, Froguel Philippe
Abstract excerpt
Genome-wide association studies have identified 240 independent loci associated with type 2 diabetes (T2D) risk, but this knowledge has not advanced precision medicine. In contrast, the genetic diagnosis of monogenic forms of diabetes (including maturity-onset diabetes of the young (MODY)) are textbook cases of genomic medicine. Recent studies trying to bridge the gap between monogenic diabetes and T2D have been...
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