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Blood-based analysis of type-2 diabetes mellitus susceptibility genes identifies specific transcript variants with deregulated expression and association with disease risk.
Christodoulou, Maria-Ioanna; Avgeris, Margaritis; Kokkinopoulou, Ioanna; Maratou, Eirini; Mitrou, Panayota; Kontos, Christos K; Pappas, Efthimios; Boutati, Eleni; Scorilas, Andreas; Fragoulis, Emmanuel G.
Afiliación
  • Christodoulou MI; Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece. mchrist@biol.uoa.gr.
  • Avgeris M; Hellenic National Center for Research, Prevention and Treatment of Diabetes Mellitus and its Complications (HNDC), Athens, Greece. mchrist@biol.uoa.gr.
  • Kokkinopoulou I; Institute of Infection, Immunity and Inflammation, University of Glasgow, Glasgow, UK. mchrist@biol.uoa.gr.
  • Maratou E; Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.
  • Mitrou P; Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.
  • Kontos CK; Hellenic National Center for Research, Prevention and Treatment of Diabetes Mellitus and its Complications (HNDC), Athens, Greece.
  • Pappas E; Hellenic National Center for Research, Prevention and Treatment of Diabetes Mellitus and its Complications (HNDC), Athens, Greece.
  • Boutati E; Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.
  • Scorilas A; Hellenic National Center for Research, Prevention and Treatment of Diabetes Mellitus and its Complications (HNDC), Athens, Greece.
  • Fragoulis EG; Second Department of Internal Medicine, School of Medicine, Attikon Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Sci Rep ; 9(1): 1512, 2019 02 06.
Article en En | MEDLINE | ID: mdl-30728419
Despite significant progress by genome-wide association studies, the ability of genetic variants to conduce to the prediction or prognosis of type-2 diabetes (T2D) is weak. Expression analysis of the corresponding genes may suggest possible links between single-nucleotide polymorphisms and T2D phenotype and/or risk. Herein, we investigated the expression patterns of 24 T2D-susceptibility genes, and their individual transcript variants (tv), in peripheral blood of T2D patients and controls (CTs), applying RNA-seq and real-time qPCR methodologies, and explore possible associations with disease features. Our data revealed the deregulation of certain transcripts in T2D patients. Among them, the down-regulation of CAPN10 tv3 was confirmed as an independent predictor for T2D. In patients, increased expression of CDK5 tv2, CDKN2A tv3 or THADA tv5 correlated positively with serum insulin levels, of CDK5 tv1 positively with % HbA1c levels, while in controls, elevated levels of TSPAN8 were associated positively with the presence of T2D family history. Herein, a T2D-specific expression profile of specific transcripts of disease-susceptibility genes is for the first time described in human peripheral blood. Large-scale studies are needed to evaluate the potential of these molecules to serve as disease biomarkers.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Leucocitos Mononucleares / Biomarcadores / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Diabetes Mellitus Tipo 2 / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Sci Rep Año: 2019 Tipo del documento: Article País de afiliación: Grecia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Leucocitos Mononucleares / Biomarcadores / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Diabetes Mellitus Tipo 2 / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Sci Rep Año: 2019 Tipo del documento: Article País de afiliación: Grecia Pais de publicación: Reino Unido