Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
Paola CarreraIlaria MarzinottoRiccardo BonfantiLuca MassiminoSilvia CalzavaraΜariagrazia FavellatoTatiana JofraValeria De GiglioClara BonuraAngela StabiliniValeria FavalliSimone BondesanMaria Pia CicaleseAndrea LaurenziAmelia CarettoGiulio FrontinoAndrea RigamontiChiara MolinariMarina ScaviniFederica SandulloEttore ZapparoliNicoletta CaridiSilvia BonfiglioValeria CastoraniFederica UngaroAlessandra PetrelliGraziano BareraAlessandro AiutiEmanuele BosiManuela BattagliaLorenzo PiemontiVito LampasonaGeorgia FousteriPublished in: Diabetologia (2023)
These findings provide insights into the genetic makeup of patients who show weak evidence of autoimmunity at disease onset. Absence of islet AAbs or the presence of a single AAb together with a low type 1 diabetes GRS may be indicative of a monogenic form of diabetes, and use of NGS may improve the accuracy of diagnosis.