Browse by author
Lookup NU author(s): Professor Tiago OuteiroORCiD
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
Background: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO), other genetic factors have also been shown to play a modulatory role. Recent evidence suggests that neuroinflammation is a pivotal factor in the pathogenesis of HD, and that targeting this process may have important therapeutic ramifications. The human β-defensin 2 (hBD2) - encoded by DEFB4 - is an antimicrobial peptide that exhibits inducible expression in astrocytes during inflammation and is an important regulator of innate and adaptive immune response. Therefore, DEFB4 may contribute to the neuroinflammatory processes observed in HD. Objective: In this study we tested the hypothesis that copy number variation (CNV) of the β-defensin region, including DEFB4, modifies the AO in HD. Methods and results: We genotyped β-defensin CNV in 490 HD individuals using the paralogue ratio test and found no association between β-defensin CNV and onset of HD. Conclusions: We conclude that it is unlikely that DEFB4 plays a role in HD pathogenesis. © 2013 - IOS Press and the authors.
Author(s): Vittori A, Orth M, Roos RAC, Outeiro TF, Giorgini F, Hollox EJ, Bachoud-Levi A-C, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder J-M, Dunnett SB, Ferreira JJ, Heiberg A, Illmann T, Landwehrmeyer GB, Levey J, Martinez-Jaurrieta MD, Nielsen JE, Pro Koivisto S, Paivarinta M, Rojo Sebastian A, Tabrizi SJ, Vandenberghe W, Verellen-Dumoulin C, Zaremba J, Uhrova T, Wahlstrom J, Barth K, Correia-Guedes L, Finisterra A-M, Bascunana Garde M, Betz S, Bos R, Ecker D, Handley OJ, Held C, Koppers K, Laura M, Martinez Descals A, Mestre T, Monza D, Townhill J, Padieu H, Paterski L, Peppa N, Rialland A, Roren N, Sasinkova P, Trigo Cubillo P, van Walsem M, Witjes-Ane M-N, Yudina E, Zielonka D, Zielonka E, Zinzi P, Bonelli RM, Herranhof B, Hodl A, Kapfhammer H-P, Koppitz M, Magnet M, Otti D, Painold A, Reisinge K, Scheibl M, Hecht K, Lilek S, Muller N, Schoggl H, Ullah J, Ribai P, Verellen-Dumoulin C, Klempir J, Majerova V, Roth J, Hjermind LE, Jakobsen O, Vinthev-Jensen T, Larsen IU, Nielsen JE, Stokholm J, Hiivola H, Martikainen K, Tuuha K, Santala M, Milkereit E, Kosinski CM, Probst D, Reetz K, Sass C, Schiefer J, Schlangen C, Werner CJ, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Lange H, Lohle M, Schmidt S, Storch A, Wolz A, Wolz M, Capetian P, Lambeck J, Zucker B, Boelmans K, Ganos C, Hidding U, Lewerenz J, Munchau A, Schmalfeld J, Stubbe L, Zittel S, Heinicke W, Ribbat M, Longinus B, Muhlau M, Peinemann A, Stadtler M, Weindl A, Winkelmann J, Ziegler C, Bechtel N, Beckmann H, Bohlen S, Holzner E, Reilmann R, Rohm S, Rumpf S, Schepers S, Dose M, Leythaeuser G, Marquard R, Raab T, Schrenk C, Schuierer M, Barth K, Buck A, Ecker D, Eschenbach C, Held C, Landwehrmeyer B, Lezius F, Nepper S, Niess A, Schwenk D, Sussmuth S, Trautmann S, Weydt P, Cormio C, de Tommaso M, Sciruicchio V, Serpino C, Ghelli E, Ginestroni A, Bertini E, Massaro F, Mechi C, Paganini M, Piacentini S, Pradella S, Romoli AM, Sorbi S, Abbruzzese G, di Poggio Giovanna Ferrandes MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Monza D, Soliveri P, Tomasello C, De Michele G, Di Maio L, Massarelli M, Rinaldi C, Roca A, Rossi F, Russo CV, Salvatore E, Sorrentino P, Tucci T, De Nicola A, Elifani F, Petrollini M, Martino T, Lovo F, Squitieri F, Bentivoglio AR, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Piccininni C, Quaranta D, Romano S, Soleti F, Spadaro M, Zinzi P, van Hout MSE, van Vugt JPP, Marit de Weert A, Bolwijn JJW, Dekker M, Leenders KL, van Oostrom JCH, Bos R, Dumas EM, Jurgens CK, van den Bogaard SJA, 't Hart EP, Kremer B, Verstappen CCP, Heiberg A, van Walsem MR, Frich J, Aaserud O, Wehus R, Bjorgo K, Fannemel M, Gorvell P, Lorentzen E, Koivisto SP, Retterstol L, Stokke B, Bjornevoll I, Sando SB, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszczyk M, Boczarska-Jedynak M, Ciach-Wysocka E, Gorzkowska A, Jasinska-Myga B, Opala G, Klodowska-Duda G, Stompel D, Banaszkiewicz K, Bocwinska D, Bojakowska-Jaremek K, Dec M, Krawczyk M, Rudzinska M, Szczudlik A, Szczygiel E, Wasielewska A, Wojcik M, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Samara H, Sempolowicz J, Zielonka D, Janik P, Kalbarczyk A, Kwiecinski H, Jamrozik Z, Antczak J, Jachinska K, Krysa W, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz-Jarosz H, Stepniak I, Sulek A, Witkowski G, Zdzienicka E, Zaremba J, Zieora-Jakutowicz K, Coelho M, Correia-Guedes L, Ferreira JJ, Mestre T, Mendes T, Valadas A, Andrade C, Gago M, Garrett C, Guerra MR, Solis P, Herrera CD, Garcia PM, Cubo E, Mariscal N, Sanchez J, Barrero FJ, Morales B, Alonso-Frech F, Perez MR, Fenollar M, Garcia R, Quiroga PP, Rivera SV, Villanueva C, Alegre J, Bascunana M, Ventura MF, Yebenes JG, Ribas GG, Moreno JLL-S, Cubillo PT, Ruiz PJG, Frech FA, Guerrero R, Martinez-Descals A, Artiga MJS, Sanchez V, Alcaraz LF, Manzanares S, Perea MFN, Reinante G, Torres MMA, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Sebastian AR, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Buongiorno MT, Munoz E, Elorza MD, Lopez CD-A, Terol SD-S, Robert MF, Ruiz BG, Casado AG, Martinez IH, Viladrich CM, Cardenas RP, Roca E, Llesoy JR, Idiago JMR, Vergara MR, Garcia SS, Riballo AV, Hoglund A, Palhagen SE, Paucar M, Sandstrom B, Svenningsson P, Reza-Soltani TW, Burgunder J-M, Kaelin A, Romero I, Schupbach M, Stebler Y, Zaugg SW, Akhtar S, Crooks J, Curtis A, de Souza J, Rickards H, Wright J, Barker RA, Di Pietro A, Fisher K, Goodman AOG, Hill S, Kershaw A, Mason S, O'Keefe D, Swain R, Guzman NV, Busse M, Butcher C, Clenaghan C, Dunnett S, Fullam R, Jones L, Jones U, Khalil H, Minster S, Owen M, Hunt S, Price K, Rosser A, Townhill J, Edwards M, Ho C, McGill M, Pearson P, Porteous M, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Burrows L, Chu C, Fletcher A, Gallantrae D, Harding A, Hamer S, Kraus A, Laver F, Longthorpe M, Markova I, Raman A, Silva M, Thomson A, Wild S, Yardumian P, Hobson E, Jamieson S, Musgrave H, Rowett L, Toscano J, Clayton C, Dipple H, Middleton J, Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Bruno S, Doherty K, Lahiri N, Novak M, Patel A, Rosser E, Tabrizi S, Taylor R, Warner T, Wild E, Arran N, Bek J, Callaghan J, Craufurd D, Howard L, Hare M, Huson S, Johnson L, Jones M, Murphy H, Oughton E, Partington-Jones L, Rogers D, Snowden J, Sollom A, Stopford C, Thompson J, Trender-Gerhard I, Verstraelen N, Westmoreland L, Nemeth AH, Siuda G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Bandmann O, Bradbury A, Fairtlough H, Fillingham K, Foustanos I, Gill P, Kazoka M, O'Donovan K, Peppa N, Quarrell O, Taylor C, Tidswell K
Publication type: Article
Publication status: Published
Journal: Journal of Huntington's Disease
Year: 2013
Volume: 2
Issue: 1
Pages: 107-124
ISSN (print): 1879-6397
ISSN (electronic): 1879-6400
Publisher: IOS Press
URL: https://doi.org/10.3233/JHD-130047
DOI: 10.3233/JHD-130047
PubMed id: 25057107
Altmetrics provided by Altmetric
