Brief Article
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World J Gastroenterol. Dec 14, 2013; 19(46): 8659-8670
Published online Dec 14, 2013. doi: 10.3748/wjg.v19.i46.8659
Synergistic effect of interleukin-10-receptor variants in a case of early-onset ulcerative colitis
Martina Galatola, Erasmo Miele, Caterina Strisciuglio, Lorella Paparo, Daniela Rega, Paolo Delrio, Francesca Duraturo, Massimo Martinelli, Giovanni Battista Rossi, Annamaria Staiano, Paola Izzo, Marina De Rosa
Martina Galatola, Lorella Paparo, Francesca Duraturo, Paola Izzo, Marina De Rosa, Department of Molecular Medicine and Medical Biotechnology and CEINGE Biotecnologie Avanzate, University of Naples “Federico II”, 80131 Naples, Italy
Martina Galatola, Erasmo Miele, Caterina Strisciuglio, Massimo Martinelli, Annamaria Staiano, Department of Translational Medical Sciences, Section of Pediatrics, University of Naples “Federico II”, 80131 Naples, Italy
Daniela Rega, Paolo Delrio, Colorectal Surgical Oncology - Abdominal Oncology Department, Istituto Nazionale per lo studio e la cura dei tumori, “Fondazione Giovanni Pascale” IRCCS-80131 Naples, Italy
Giovanni Battista Rossi, Endoscopy Unit, Istituto Nazionale per lo studio e la cura dei tumori, “Fondazione Giovanni Pascale” IRCCS-80131 Naples, Italy
Author contributions: Izzo P and De Rosa M contributed equally to this work; Galatola M, Duraturo F and Paparo L performed the majority of the experiments; Miele E, Strisciuglio C, Martinelli M, Rega D, Delrio P and Rossi GB provided the collection of all the human material and vital reagents and were also involved in editing the manuscript; Staiano A provided the collection of all the human material and the financial support for this work; Izzo P and De Rosa M coordinated and provided the financial support for this work, designed the study and wrote the manuscript.
Supported by A grant from Ministero Salute - Ricerca Oncologica - RECAM-2006-353005; PRIN 2007-prot. 2007EN8F7T-004; Convenzione CEINGE-Regione Campania. POR Campania FSE 2007-2013, Project CREME; PRIN 2010-2011-prot. 2010K34C45_006
Correspondence to: Marina De Rosa, PhD, Department of Molecular Medicine and Medical Biotechnology and CEINGE Biotecnologie Avanzate, University of Naples “Federico II”, 80131 Naples, Italy. marina.derosa@unina.it
Telephone: +39-81-7463136 Fax: +39-81-7464359
Received: May 8, 2013
Revised: July 26, 2013
Accepted: August 17, 2013
Published online: December 14, 2013
Processing time: 224 Days and 4.8 Hours
Core Tip

Core tip: We identified a novel point mutation within the interleukin-10 (IL10) receptor genes promoter (the -413G->T), associated with mRNA under-expression. We propose that this mutation has a synergistic effect with other variant alleles of IL10 receptor genes in very-early ulcerative colitis (UC) onset in this young child. β-catenin and tumour necrosis factor α receptors-I (TNFRI) protein were both over-expressed in peripheral blood cells of proband relatives, whereas TNFRII was over-expressed only in the proband. We suggest that β-catenin and TNFRI protein expression could represent molecular markers of sub-clinical disease in apparently healthy relatives of patients with early-onset UC.