MANOUSH TOHIDIRAD

Dottoressa di ricerca

ciclo: XXXIII


supervisore: Prof. Vincenzo Trischitta

Titolo della tesi: Role of monogenic diabetes genes on age at onset of type 2 diabetes mellitus

The rising prevalence of type 2 diabetes (T2D) among young adults is alarming because of the increased risk of cardiovascular complications in early-onset T2D patients. Both rare and common variants shape the risk of T2D. The role of such variants on disease anticipation is unknown. 600 individuals with age at T2D onset <35 (n=300, cases) or >65 (n=300, controls) years, selected from a total of 9,712 patients were investigated to study whether rare (minor allele frequency, MAF, <1%) and possibly deleterious (i.e. with an estimated impact on protein function) variants from 27 monogenic diabetes-genes and/or common T2D susceptibility SNPs play a role on the risk of early-onset diabetes. Rare variants considered together significantly increased by 64% the risk of early-onset T2D. This enrichment was progressively greater in classes of progressively rarer allele, culminating to more than a 6.5-fold increase for ultra-rare variants (MAF<0.001%). One unit of a genetic score based on T2D-SNPs significantly increased by 9% the risk of early-onset disease. Getting further insights into genetic background shaping the risk of early-onset T2D is part of a general attempt aimed at predicting and possibly preventing the anticipation of T2D.

Produzione scientifica

11573/1657827 - 2022 - Contribution of rare variants in monogenic diabetes-genes to early-onset type 2 diabetes
Pezzilli, Serena; Tohidirad, Manoush; Biagini, Tommaso; Scarale, Maria Giovanna; Alberico, Federica; Mercuri, Luana; Mannino, Gaia Chiara; Garofolo, Monia; Filardi, Tiziana; Tang, Yaling; Giuffrida, Fernando; Mendonca, Christine; Andreozzi, Francesco; Baroni, Marco Giorgio; Buzzetti, Raffaella; Cavallo, Maria Gisella; Cossu, Efisio; D'angelo, Paola; De Cosmo, Salvatore; Lamacchia, Olga; Leonetti, Frida; Morano, Susanna; Morviducci, Lelio; Penno, Giuseppe; Pozzilli, Paolo; Pugliese, Giuseppe; Sesti, Giorgio; Mazza, Tommaso; Doria, Alessandro; Trischitta, Vincenzo; Prudente, Sabrina - 01a Articolo in rivista
rivista: DIABETES & METABOLISM (Masson Editeur:21 rue Camille Desmoulins, 92786 Issy Cedex 9 France:011 33 1 73281634, EMAIL: infos@masson.fr, INTERNET: http://www.masson.fr, Fax: 011 33 1 73281649) pp. 1-5 - issn: 1262-3636 - wos: WOS:000838722100002 (3) - scopus: 2-s2.0-85134181157 (3)

11573/1500029 - 2020 - Ruolo della variabilità genetica nel diabete tipo 2 (DT2) ad insorgenza precoce.
Pezzilli, S.; Tohidirad, M.; Biagini, T.; Mercuri, L.; Alberico, F.; Scarale, M. G.; Garofolo, M.; Mannino, G. C.; Lamacchia, O.; Filardi, T.; Andreozzi, F.; Baroni, M. G.; Buzzetti, R.; Cavallo, M. G.; Cossu, E.; D'angelo, P.; De Cosmo, S.; Leonetti, F.; Morano, S.; Morviducci, L.; Pozzilli, P.; Pugliese, G.; Sesti, G.; Penno, G.; Mazza, T.; Trischitta, V.; Prudente, S. - 04d Abstract in atti di convegno
congresso: SID 2020 (Virtual Edition)
libro: SID 2020 - ()

11573/1499876 - 2020 - Contribution of rare and common genetic variants to early-onset type 2 diabetes
Pezzilli, S; Tohidirad, M; Biagini, T; Alberico, F; Mercuri, L; Scarale, Mg; Garofolo, M; Mannino, Gc; Filardi, T; Andreozzi, F; Mazza, T; Trischitta, V; Prudente, S - 04c Atto di convegno in rivista
rivista: DIABETOLOGIA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. S170-S170 - issn: 0012-186X - wos: WOS:000565776600342 (1) - scopus: (0)
congresso: EASD 2020 (Virtual)

11573/1499902 - 2020 - Clinical utility for monogenic diabetes molecular testing among patients with early-onset type 2 diabetes
Pezzilli, S; Tohidirad, M; Biagini, T; Mercuri, L; Alberico, F; Garofolo, M; Mannino, Gc; Lamacchia, O; Filardi, T; Andreozzi, F; Baroni, Mg; Buzzetti, R; Cavallo, Mg; Cossu, E; D'angelo, P; De Cosmo, S; Leonetti, F; Morano, S; Morviducci, L; Pozzilli, P; Pugliese, G; Sesti, G; Penno, G; Mazza, T; Trischitta, V; Prudente, S. - 04f Poster
congresso: SIGU 2020 (Virtual Edition)
libro: SIGU 2020 - ()

11573/1500043 - 2019 - Unraveling the genetic background of early-onset type 2 diabetes: a step forward toward precision medicine
Pezzilli, S; Tohidirad, M; Biagini, T; Mercuri, L; Alberico, F; Scarale, Mg; Garofolo, M; Mannino, G; Lamacchia, O; Filardi, T; Andreozzi, F; Baroni, Mg; Buzzetti, R; Cavallo, Mg; Copetti, M; Cossu, E; D'angelo, P; De Cosmo, S; Di Mauro, L; Leonetti, F; Morano, S; Morviducci, L; Pozzilli, P; Pugliese, G; Summer Study In Diabetes, Group; Sesti, G; Penno, G; Mazza, T; Trischitta, V; Prudente, S. - 04d Abstract in atti di convegno
congresso: SIGU 2019 (Rome; Italy)
libro: SIGU 2019 - ()

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