title: 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.
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.
authors.affiliation: Medical Genetics Department, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Velenjak Street, Tehran, Iran.
authors.forename: Hamid
authors.initials: H
authors.lastname: Ghaedi
authors.affiliation: Medical Genetics Department, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Velenjak Street, Tehran, Iran.
authors.forename: Milad
authors.initials: M
authors.lastname: Bastami
authors.affiliation: Faculty of Veterinary, Shahrekord Islamic Azad University, Shahrekord, Iran.
authors.forename: Mohammad Mehdi
authors.initials: MM
authors.lastname: Jahani
authors.affiliation: Clinical Biochemistry Department, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Behnam
authors.initials: B
authors.lastname: Alipoor
authors.affiliation: Medical Biotechnology Department, Pasteur Institute of Iran, Tehran, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Tabasinezhad
authors.affiliation: Department of Pharmaceutical Biotechnology, Faculty of Pharmacy, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Omar
authors.initials: O
authors.lastname: Ghaderi
authors.affiliation: Medical Genetics Department, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Ziba
authors.initials: Z
authors.lastname: Nariman-Saleh-Fam
authors.affiliation: Medical Genetics Department, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Velenjak Street, Tehran, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Mirfakhraie
authors.affiliation: Medical Genetics Department, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Velenjak Street, Tehran, Iran.
authors.forename: Abolfazl
authors.initials: A
authors.lastname: Movafagh
authors.affiliation: Medical Genetics Department, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Velenjak Street, Tehran, Iran. davood_omrani@yahoo.co.uk.
authors.forename: Mir Davood
authors.initials: MD
authors.lastname: Omrani
authors.affiliation: Gene Expression - Microarrays Laboratory, Bambino Gesù Children's Hospital, IRCCS, Polo di Ricerca - V.le di San Paolo 15, 00146, Rome, Italy. andrea.masotti@opbg.net.
authors.forename: Andrea
authors.initials: A
authors.lastname: Masotti
mesh_terms: D001665:Binding Sites; D019295:Computational Biology / Q000379:methods; D030541:Databases, Genetic; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000378:metabolism; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D035683:MicroRNAs / Q000235:genetics / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: D035683:MicroRNAs; D012333:RNA, Messenger
keywords: Diabetes mellitus; Genome-wide association study; MicroRNA; Single nucleotide polymorphism; Target site