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6 results on '"Liberatore, G"'

3. Response to interferon-beta treatment in multiple sclerosis patients: a genome-wide association study

Author

Mahurkar, S, Moldovan, M, Suppiah, V, Sorosina, M, Clarelli, F, Liberatore, G, Malhotra, S, Montalban, X, Antigüedad, A, Krupa, M, Jokubaitis, V G, McKay, F C, Gatt, P N, Fabis-Pedrini, M J, Martinelli, V, Comi, G, Lechner-Scott, J, Kermode, A G, Slee, M, Taylor, B V, Vandenbroeck, K, Comabella, M, Boneschi, F M, Australian, The, and King, C

Published
2016
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5. Response to interferon-beta treatment in multiple sclerosis patients: a genome-wide association study

Author

Vilija Jokubaitis, Manuel Comabella, Vittorio Martinelli, Fiona C. McKay, Filippo Martinelli Boneschi, Malgorzata Krupa, Giuseppe Liberatore, Jeannette Lechner-Scott, Vijayaprakash Suppiah, G. Comi, Mark Slee, Allan G. Kermode, Xavier Montalban, C King, Max Moldovan, Bruce V. Taylor, Melissa Sorosina, Marzena J. Fabis-Pedrini, Sunny Malhotra, Sunil Mahurkar, Ferdinando Clarelli, Koen Vandenbroeck, Prudence N. Gatt, Alfredo Antigüedad, Mahurkar, S, Moldovan, M, Suppiah, V, Sorosina, M, Clarelli, F, Liberatore, G, Malhotra, S, Montalban, X, Antigüedad, A, Krupa, M, Jokubaitis, Vg, Mckay, Fc, Gatt, Pn, Fabis Pedrini, Mj, Martinelli, V, Comi, Giancarlo, Lechner Scott, J, Kermode, Ag, Slee, M, Taylor, Bv, Vandenbroeck, K, Comabella, M, Boneschi, Fm, and King, C

Subjects
Adult, Genetic Markers, Male, 0301 basic medicine, Oncology, medicine.medical_specialty, Multiple Sclerosis, Genotype, Genomics, Genome-wide association study, Biology, multiple sclerosis, Bioinformatics, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Genetic, FHIT, Internal medicine, Genetics, medicine, Humans, SNP, interferon-beta, Gene, Pharmacology, Multiple sclerosis, Australia, Interferon-beta, medicine.disease, 030104 developmental biology, Italy, Spain, Genetic marker, genome-wide association, Female, Genome-Wide Association Study, Molecular Medicine, Settore MED/26 - Neurologia, 030217 neurology & neurosurgery
Abstract

Up to 50% of multiple sclerosis (MS) patients do not respond to interferon-beta (IFN-β) treatment and determination of response requires lengthy clinical follow-up of up to 2 years. Response predictive genetic markers would significantly improve disease management. We aimed to identify IFN-β treatment response genetic marker(s) by performing a two-stage genome-wide association study (GWAS). The GWAS was carried out using data from 151 Australian MS patients from the ANZgene/WTCCC2 MS susceptibility GWAS (responder (R)=51, intermediate responders=24 and non-responders (NR)=76). Of the single-nucleotide polymorphisms (SNP) that were validated in an independent group of 479 IFN-β-treated MS patients from Australia, Spain and Italy (R=273 and NR=206), eight showed evidence of association with treatment response. Among the replicated associations, the strongest was observed for FHIT (Fragile Histidine Triad; combined P-value 6.74 × 10-6) and followed by variants in GAPVD1 (GTPase activating protein and VPS9 domains 1; combined P-value 5.83 × 10-5) and near ZNF697 (combined P-value 8.15 × 10-5). Refereed/Peer-reviewed

Published
2016

6. Pharmacogenetic study of long-term response to interferon-β treatment in multiple sclerosis

Author

Federica Esposito, Giuseppe Liberatore, Bruno Colombo, Ana Maria Osiceanu, Elisabetta Mascia, Melissa Sorosina, Giulia Pavan, Silvia Santoro, Ferdinando Clarelli, F. Martinelli-Boneschi, Lucia Moiola, Giancarlo Comi, Vittorio Martinelli, Clarelli, F., Liberatore, G., Sorosina, M., Osiceanu, A. M., Esposito, F., Mascia, E., Santoro, S., Pavan, G., Colombo, B., Moiola, L., Martinelli, V., Comi, Giancarlo, and Martinelli boneschi, F.

Subjects
0301 basic medicine, Male, Time Factors, Pharmacogenomic Variants, Genome-wide association study, Bioinformatics, Receptors, Metabotropic Glutamate, Pharmacogenetic Study, 0302 clinical medicine, Immunologic Factor, Receptors, Kainic Acid, Multiple Sclerosi, Pharmacogenetic, Middle Aged, Phenotype, Treatment Outcome, Italy, Pharmacogenomic Variant, Molecular Medicine, Female, Case-Control Studie, Human, Adult, Multiple Sclerosis, Time Factor, Adolescent, Genotype, Cell Adhesion Molecules, Neuronal, Quantitative Trait Loci, Quantitative trait locus, Biology, Peripheral blood mononuclear cell, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Genetic, Genetics, medicine, Humans, Immunologic Factors, Allele, Pharmacology, Multiple sclerosis, Gene Expression Profiling, Interferon-beta, medicine.disease, Pharmacogenomic Testing, Gene expression profiling, 030104 developmental biology, Pharmacogenetics, Case-Control Studies, Immunology, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

The aim of the study is the identification of genetic factors that influence the long-term response to interferon-β (IFNβ) (4-year follow-up). We performed a genome-wide association study in 337 IFNβ-treated Italian multiple sclerosis patients at the extreme of treatment response, and we meta-analyzed association effects, integrating results with pathway analysis, gene-expression profiling of IFNβ-stimulated peripheral blood mononuclear cells from 20 healthy controls (HC) and expression quantitative locus (eQTL) analyses. From meta-analysis, 43 markers were associated at P

Published
2015

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