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A Bioinformatics Approach to the Identification of Variants Associated With Type 1 and Type 2 Diabetes Mellitus That Reside in Functionally Validated Mirnas Binding Sites Publisher Pubmed



Ghaedi H1 ; Bastami M1 ; Jahani MM2 ; Alipoor B3 ; Tabasinezhad M4 ; Ghaderi O5 ; Narimansalehfam Z6 ; Mirfakhraie R1 ; Movafagh A1 ; Omrani MD1 ; Masotti A7
Authors
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Authors Affiliations
  1. 1. Medical Genetics Department, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Velenjak Street, Tehran, Iran
  2. 2. Faculty of Veterinary, Shahrekord Islamic Azad University, Shahrekord, Iran
  3. 3. Clinical Biochemistry Department, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Medical Biotechnology Department, Pasteur Institute of Iran, Tehran, Iran
  5. 5. Department of Pharmaceutical Biotechnology, Faculty of Pharmacy, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Medical Genetics Department, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  7. 7. Gene Expression - Microarrays Laboratory, Bambino Gesu Children’s Hospital, IRCCS, Polo di Ricerca - V.le di San Paolo 15, Rome, 00146, Italy

Source: Biochemical Genetics Published:2016


Abstract

The present work is aimed at finding variants associated with Type 1 and Type 2 diabetes mellitus (DM) that reside in functionally validated miRNAs binding sites and that can have a functional role in determining diabetes and related pathologies. Using bioinformatics analyses we obtained a database of validated polymorphic miRNA binding sites which has been intersected with genes related to DM or to variants associated and/or in linkage disequilibrium (LD) with it and is reported in genome-wide association studies (GWAS). The workflow we followed allowed us to find variants associated with DM that also reside in functional miRNA binding sites. These data have been demonstrated to have a functional role by impairing the functions of genes implicated in biological processes linked to DM. In conclusion, our work emphasized the importance of SNPs located in miRNA binding sites. The results discussed in this work may constitute the basis of further works aimed at finding functional candidates and variants affecting protein structure and function, transcription factor binding sites, and non-coding epigenetic variants, contributing to widen the knowledge about the pathogenesis of this important disease. © 2016, Springer Science+Business Media New York.
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