PMID- 29145880 OWN - NLM STAT- MEDLINE DCOM- 20180724 LR - 20181113 IS - 1742-2094 (Electronic) IS - 1742-2094 (Linking) VI - 14 IP - 1 DP - 2017 Nov 16 TI - Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15. PG - 224 LID - 10.1186/s12974-017-0996-1 [doi] LID - 224 AB - BACKGROUND: The aim of the research is to study the human leukocyte antigen (HLA) class II allele frequencies in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated with anti-neurofascin 155 (NF155) antibodies. METHODS: Thirteen anti-NF155+ and 35 anti-NF155 negative (anti-NF155neg) CIDP patients were included in a case-control study. The frequencies of the DRB1 HLA allele were analyzed in all patients while DQ frequencies were only studied in patients sharing the DRB1*15 allele. In silico HLA-peptide binding and NF155 antigenicity, predictions were performed to analyze overlap between presented peptides and antigenic regions. RESULTS: DRB1*15 alleles (DRB1*15:01 and DRB1*15:02) were present in 10 out of 13 anti-NF155+ CIDP patients and in only 5 out of 35 anti-NF155neg CIDP patients (77 vs 14%; OR = 20, CI = 4.035 to 99.13). DRB1*15 alleles appeared also in significantly higher proportions in anti-NF155+ CIDP than in normal population (77 vs 17%; OR = 16.9, CI = 4.434 to 57.30). Seven anti-NF155+ CIDP patients (53%) and 5 anti-NF155neg CIDP patients had the DRB1*15:01 allele (OR = 7, p = 0.009), while 3 anti-NF155+ CIDP patients and none of the anti-NF155neg CIDP patients had the DRB1*15:02 allele (OR = 23.6, p = 0.016). In silico analysis of the NF155 peptides binding to DRB1*15 alleles showed significant overlap in the peptides presented by the 15:01 and 15:02 alleles, suggesting functional homology. CONCLUSIONS: DRB1*15 alleles are the first strong risk factor associated to a CIDP subset, providing additional evidence that anti-NF155+ CIDP patients constitute a differentiated disease within the CIDP syndrome. FAU - Martinez-Martinez, Laura AU - Martinez-Martinez L AD - Immunology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain. FAU - Lleixa, Ma Cinta AU - Lleixa MC AD - Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Mas Casanovas 90, 08041, Barcelona, Spain. AD - Centro para la Investigacion Biomedica en Red en Enfermedades Raras, CIBERER, Madrid, Spain. FAU - Boera-Carnicero, Gemma AU - Boera-Carnicero G AD - Immunology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain. FAU - Cortese, Andrea AU - Cortese A AD - IRCCS Foundation C. Mondino National Neurological Institute, Pavia, Italy. AD - MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK. FAU - Devaux, Jerome AU - Devaux J AD - Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille - CRN2M, UMR 7286, CNRS, Aix-Marseille Universite, Marseille, France. FAU - Siles, Ana AU - Siles A AD - Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Mas Casanovas 90, 08041, Barcelona, Spain. AD - Centro para la Investigacion Biomedica en Red en Enfermedades Raras, CIBERER, Madrid, Spain. FAU - Rajabally, Yusuf AU - Rajabally Y AD - Regional Neuromuscular Clinic, Queen Elizabeth Hospital, University Hospitals of Birmingham, Birmingham, UK. FAU - Martinez-Pineiro, Alicia AU - Martinez-Pineiro A AD - Neurology Department, Hospital Germans Trias i Pujol, Universitat Autonoma de Barcelona, Badalona, Spain. FAU - Carvajal, Alejandra AU - Carvajal A AD - Department of Neurology, Hospital Virgen de las Nieves, Granada, Spain. FAU - Pardo, Julio AU - Pardo J AD - Department of Neurology, Hospital Clinico de Santiago, Santiago de Compostela, Spain. FAU - Delmont, Emilien AU - Delmont E AD - Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille - CRN2M, UMR 7286, CNRS, Aix-Marseille Universite, Marseille, France. AD - Referral Center for ALS and Neuromuscular Diseases, Timone University Hospital, Aix-Marseille University, Marseille, France. FAU - Attarian, Shahram AU - Attarian S AD - Referral Center for ALS and Neuromuscular Diseases, Timone University Hospital, Aix-Marseille University, Marseille, France. FAU - Diaz-Manera, Jordi AU - Diaz-Manera J AD - Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Mas Casanovas 90, 08041, Barcelona, Spain. AD - Centro para la Investigacion Biomedica en Red en Enfermedades Raras, CIBERER, Madrid, Spain. FAU - Callegari, Ilaria AU - Callegari I AD - IRCCS Foundation C. Mondino National Neurological Institute, Pavia, Italy. AD - Neuroscience Consortium, Monza Policlinico and Pavia Mondino, University of Pavia, Pavia, Italy. FAU - Marchioni, Enrico AU - Marchioni E AD - IRCCS Foundation C. Mondino National Neurological Institute, Pavia, Italy. FAU - Franciotta, Diego AU - Franciotta D AD - IRCCS Foundation C. Mondino National Neurological Institute, Pavia, Italy. FAU - Benedetti, Luana AU - Benedetti L AD - Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS AOU San Martino-IST, Genoa, Italy. FAU - Lauria, Guiseppe AU - Lauria G AD - Neuroalgology Unit, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan, Italy. AD - Department of Biomedical and Clinical Sciences "Luigi Sacco", University of Milan, Milan, Italy. FAU - de la Calle Martin, Oscar AU - de la Calle Martin O AD - Immunology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain. FAU - Juarez, Candido AU - Juarez C AD - Immunology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain. FAU - Illa, Isabel AU - Illa I AD - Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Mas Casanovas 90, 08041, Barcelona, Spain. AD - Centro para la Investigacion Biomedica en Red en Enfermedades Raras, CIBERER, Madrid, Spain. FAU - Querol, Luis AU - Querol L AUID- ORCID: 0000-0002-4289-8264 AD - Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Mas Casanovas 90, 08041, Barcelona, Spain. lquerol@santpau.cat. AD - Centro para la Investigacion Biomedica en Red en Enfermedades Raras, CIBERER, Madrid, Spain. lquerol@santpau.cat. LA - eng GR - PI16/000627/Instituto de Salud Carlos III/ GR - Paranodal autoimmunity in CIDP: diagnostic and therapeutic value/GBS-CIDP Foundation International/ PT - Journal Article DEP - 20171116 PL - England TA - J Neuroinflammation JT - Journal of neuroinflammation JID - 101222974 RN - 0 (Autoantibodies) RN - 0 (Autoantigens) RN - 0 (Cell Adhesion Molecules) RN - 0 (HLA-DRB1 Chains) RN - 0 (HLA-DRB1*15 antigen) RN - 0 (NFASC protein, human) RN - 0 (Nerve Growth Factors) SB - IM MH - Adult MH - Aged MH - Autoantibodies/immunology MH - Autoantigens/immunology MH - Case-Control Studies MH - Cell Adhesion Molecules/*immunology MH - Female MH - Gene Frequency MH - Genetic Predisposition to Disease/*genetics MH - Genotype MH - HLA-DRB1 Chains/*genetics MH - Humans MH - Male MH - Middle Aged MH - Nerve Growth Factors/*immunology MH - Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/*genetics/*immunology PMC - PMC5691853 OTO - NOTNLM OT - Antibodies OT - CIDP OT - HLA DRB1*15 OT - NF155 COIS- ETHICS APPROVAL AND CONSENT TO PARTICIPATE: Informed consent for study participation was obtained from all patients under protocols approved by the Ethics Committee of the Hospital de la Santa Creu i Sant Pau and local Ethics' Committees/Institutional Boards from all other participating centers. CONSENT FOR PUBLICATION: Not applicable. No individual data, videos, or images from patients are provided. COMPETING INTERESTS: LQ has provided expert testimony and research funds for Grifols and received research funds from Novartis Spain. II provided expert testimony and received speaking fees and travel grants from Pfizer. JD-M provided expert testimony, speaking fees and travel grants for Genzyme. PUBLISHER'S NOTE: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. EDAT- 2017/11/18 06:00 MHDA- 2018/07/25 06:00 PMCR- 2017/11/16 CRDT- 2017/11/18 06:00 PHST- 2017/10/01 00:00 [received] PHST- 2017/11/06 00:00 [accepted] PHST- 2017/11/18 06:00 [entrez] PHST- 2017/11/18 06:00 [pubmed] PHST- 2018/07/25 06:00 [medline] PHST- 2017/11/16 00:00 [pmc-release] AID - 10.1186/s12974-017-0996-1 [pii] AID - 996 [pii] AID - 10.1186/s12974-017-0996-1 [doi] PST - epublish SO - J Neuroinflammation. 2017 Nov 16;14(1):224. doi: 10.1186/s12974-017-0996-1.