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Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries.
Vaxillaire, Martine; Bonnefond, Amélie; Liatis, Stavros; Ben Salem Hachmi, Leila; Jotic, Aleksandra; Boissel, Mathilde; Gaget, Stefan; Durand, Emmanuelle; Vaillant, Emmanuel; Derhourhi, Mehdi; Canouil, Mickaël; Larcher, Nicolas; Allegaert, Frédéric; Medlej, Rita; Chadli, Asma; Belhadj, Azzedine; Chaieb, Molka; Raposo, Joao-Felipe; Ilkova, Hasan; Loizou, Doros; Lalic, Nebojsa; Vassallo, Josanne; Marre, Michel; Froguel, Philippe.
Afiliación
  • Vaxillaire M; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur Lille, Univ. Lille, Lille University Hospital, Lille, France. Electronic address: martine.vaxillaire@cnrs.fr.
  • Bonnefond A; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur Lille, Univ. Lille, Lille University Hospital, Lille, France; Department of Metabolism, Section of Genomics of Common Disease, Imperial College London, London, United Kingdom. Electronic address: amelie.bo
  • Liatis S; First Department of Propaedeutic Medicine, National and Kapodistrian University of Athens Medical School, Diabetes Center, Laiko General Hospital, Athens, Greece.
  • Ben Salem Hachmi L; Department of Endocrinology and Metabolic Diseases, National Institut of Nutrition, Tunis, Tunisia.
  • Jotic A; Department of Endocrinology, Diabetes and Metabolic Diseases, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
  • Boissel M; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur Lille, Univ. Lille, Lille University Hospital, Lille, France.
  • Gaget S; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur Lille, Univ. Lille, Lille University Hospital, Lille, France.
  • Durand E; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur Lille, Univ. Lille, Lille University Hospital, Lille, France.
  • Vaillant E; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur Lille, Univ. Lille, Lille University Hospital, Lille, France.
  • Derhourhi M; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur Lille, Univ. Lille, Lille University Hospital, Lille, France.
  • Canouil M; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur Lille, Univ. Lille, Lille University Hospital, Lille, France.
  • Larcher N; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur Lille, Univ. Lille, Lille University Hospital, Lille, France.
  • Allegaert F; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur Lille, Univ. Lille, Lille University Hospital, Lille, France.
  • Medlej R; Chronic Care Center, Beirut, Lebanon.
  • Chadli A; Department of Endocrinology, Ibn Rochd University Hospital, Casablanca, Morocco.
  • Belhadj A; Department of Internal Medicine, CHU Dr Ben Badis University Hospital, Constantine, Algeria.
  • Chaieb M; Department of Endocrinology, Farhat Hached Hospital, Sousse, Tunisia.
  • Raposo JF; APDP Diabetes Portugal, Lisbon, Portugal.
  • Ilkova H; Department of Endocrinology, School of Medicine, Istanbul University, Istanbul, Turkey.
  • Loizou D; IATRODIAGNOSIS Medical Center, Nicosia, Cyprus.
  • Lalic N; Department of Endocrinology, Diabetes and Metabolic Diseases, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
  • Vassallo J; Division of Endocrinology and University of Malta Medical School, Mater Dei Hospital; Centre of Molecular Medicine and Biobanking, University of Malta, Malta.
  • Marre M; Department of Diabetology-Endocrinology-Nutrition, Hôpital Bichat, DHU FIRE, Assistance Publique Hôpitaux de Paris, Paris, France; Inserm U1138, Centre de Recherche des Cordeliers, Paris, France; UFR de Médecine, University Paris Diderot, Sorbonne Paris Cité, Paris, France. Electronic address: secre
  • Froguel P; Inserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur Lille, Univ. Lille, Lille University Hospital, Lille, France; Department of Metabolism, Section of Genomics of Common Disease, Imperial College London, London, United Kingdom.
Diabetes Res Clin Pract ; 171: 108553, 2021 Jan.
Article en En | MEDLINE | ID: mdl-33242514
BACKGROUND: Diagnosis of monogenic diabetes has important clinical implications for treatment and health expenditure. However, its prevalence remains to be specified in many countries, particularly from South Europe, North Africa and Middle-East, where non-autoimmune diabetes in young adults is increasing dramatically. AIMS: To identify cases of monogenic diabetes in young adults from Mediterranean countries and assess the specificities between countries. METHODS: We conducted a transnational multicenter study based on exome sequencing in 204 unrelated patients with diabetes (age-at-diagnosis: 26.1 ± 9.1 years). Rare coding variants in 35 targeted genes were evaluated for pathogenicity. Data were analyzed using one-way ANOVA, chi-squared test and factor analysis of mixed data. RESULTS: Forty pathogenic or likely pathogenic variants, 14 of which novel, were identified in 36 patients yielding a genetic diagnosis rate of 17.6%. The majority of cases were due to GCK, HNF1A, ABCC8 and HNF4A variants. We observed highly variable diagnosis rates according to countries, with association to genetic ancestry. Lower body mass index and HbA1c at study inclusion, and less frequent insulin treatment were hallmarks of pathogenic variant carriers. Treatment changes following genetic diagnosis have been made in several patients. CONCLUSIONS: Our data from patients in several Mediterranean countries highlight a broad clinical and genetic spectrum of diabetes, showing the relevance of wide genetic testing for personalized care of early-onset diabetes.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diabetes Mellitus Tipo 2 Tipo de estudio: Clinical_trials / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Diabetes Res Clin Pract Asunto de la revista: ENDOCRINOLOGIA Año: 2021 Tipo del documento: Article Pais de publicación: Irlanda
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diabetes Mellitus Tipo 2 Tipo de estudio: Clinical_trials / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Diabetes Res Clin Pract Asunto de la revista: ENDOCRINOLOGIA Año: 2021 Tipo del documento: Article Pais de publicación: Irlanda