title: No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis.
abstract: IFI16 encodes a nucleic acid-sensor which detects latent EBV and triggers inflammasome activation. We analysed IFI16 variants in two multiple sclerosis (MS) case-control cohorts from Italy and Spain; results were combined with a previous study. A risk variant for celiac disease/rheumatoid arthritis, a polymorphic exon 7 duplication, and a copy number variant (CNV) in the 5' region were genotyped. No significant association was detected, although heterogeneity was noted for the 5' CNV in the Italian plus GeneMSA cohorts and the Spanish sample. Thus, IFI16 variants do not contribute to MS susceptibility, although some heterogeneity may exist for the 5' CNV.
authors.affiliation: Don C. Gnocchi Foundation ONLUS, IRCCS, 20100 Milan, Italy.
authors.forename: Franca R
authors.initials: FR
authors.lastname: Guerini
authors.affiliation: Don C. Gnocchi Foundation ONLUS, IRCCS, 20100 Milan, Italy; Department of Physiopathology and Transplantation, University of Milan, 20090 Milano, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Clerici
authors.affiliation: Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy.
authors.forename: Rachele
authors.initials: R
authors.lastname: Cagliani
authors.affiliation: Department of Neurology-Neuroimmunology, Centre d' Esclerosi Múltiple de Catalunya, Cemcat, Hospital Universitari Vall d' Hebron (HUVH), Barcelona, Spain.
authors.forename: Sunny
authors.initials: S
authors.lastname: Malhotra
authors.affiliation: Department of Neurology-Neuroimmunology, Centre d' Esclerosi Múltiple de Catalunya, Cemcat, Hospital Universitari Vall d' Hebron (HUVH), Barcelona, Spain.
authors.forename: Xavier
authors.initials: X
authors.lastname: Montalban
authors.affiliation: Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy.
authors.forename: Diego
authors.initials: D
authors.lastname: Forni
authors.affiliation: Don C. Gnocchi Foundation ONLUS, IRCCS, 20100 Milan, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Agliardi
authors.affiliation: Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Riva
authors.affiliation: Don C. Gnocchi Foundation ONLUS, IRCCS, 20100 Milan, Italy.
authors.forename: Domenico
authors.initials: D
authors.lastname: Caputo
authors.affiliation: Dino Ferrari Centre, Department of Physiopathology and Transplantation, University of Milan, Fondazione Ca' Granda IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.affiliation: Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milano, Italy.
authors.forename: Rosanna
authors.initials: R
authors.lastname: Asselta
authors.affiliation: Dino Ferrari Centre, Department of Physiopathology and Transplantation, University of Milan, Fondazione Ca' Granda IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Fenoglio
authors.affiliation: Dino Ferrari Centre, Department of Physiopathology and Transplantation, University of Milan, Fondazione Ca' Granda IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy.
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.affiliation: Dino Ferrari Centre, Department of Physiopathology and Transplantation, University of Milan, Fondazione Ca' Granda IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy.
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
authors.affiliation: Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy; Dino Ferrari Centre, Department of Physiopathology and Transplantation, University of Milan, Fondazione Ca' Granda IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy.
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.affiliation: Department of Neurology-Neuroimmunology, Centre d' Esclerosi Múltiple de Catalunya, Cemcat, Hospital Universitari Vall d' Hebron (HUVH), Barcelona, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Comabella
authors.affiliation: Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy. Electronic address: manuela.sironi@bp.lnf.it.
authors.forename: Manuela
authors.initials: M
authors.lastname: Sironi
mesh_terms: D016022:Case-Control Studies; D015331:Cohort Studies; D056915:DNA Copy Number Variations / Q000235:genetics*; D005091:Exons; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007391:International Cooperation; D007558:Italy; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013030:Spain
chemical_list: D009687:Nuclear Proteins; D010750:Phosphoproteins; C076700:IFI16 protein, human
keywords: EBV infection; Genetic susceptibility; IFI16 (interferon-inducible protein 16); Multiple sclerosis