HFE p.H63D polymorphism does not influence ALS phenotype and survival

Mario Sabatelli, Marcella Zollino, Giuseppe Marangi, Amelia Conte, Marco Luigetti, Serena Lattante, Adriano Chiò, Gabriele Mora, Claudia Caponnetto, Christian Lunetta, Bryan J. Traynor, Janel O. Johnson, Mike A. Nalls, Andrea Calvo, Cristina Moglia, Giuseppe Borghero, Maria Rosaria Monsurrò, Vincenzo La Bella, Paolo Volanti, Isabella SimoneFabrizio Salvi, Francesco O. Logullo, Riva Nilo, Fabio Giannini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Francesca L. Conforti, Silvana Penco, Maura Brunetti, Marco Barberis, Gabriella Restagno, Giancarlo Logroscino, Ilaria Bartolomei, Margherita Capasso, Gianluigi Mancardi, Paola Origone, Kalliopi Marinou, Riccardo Sideri, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Nicola Fini, Eleni Georgoulopoulou, Lucio Tremolizzo, Gioacchino Tedeschi, Francesca Trojsi, Giovanni Piccirillo, Viviana Cristillo, Rossella Spataro, Tiziana Colletti, Marialuisa Santarelli, Antonio Petrucci, Stefania Battistini, Claudia Ricci, Michele Benigni, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Ilardi, Davide Bertuzzo, Fabrizio Pisano, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Anna Ticca, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Enzo Ortu, Tea B. Cau, Daniela Loi

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

6 Citazioni (Scopus)

Abstract

It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We have evaluated the effect of HFE p.His63Asp polymorphism on the phenotype in 1351 Italian ALS patients (232 of Sardinian ancestry). Patients were genotyped for the HFE p.His63Asp polymorphism (CC, GC, and GG). All patients were also assessed for C9ORF72, TARDBP, SOD1, and FUS mutations. Of the 1351 ALS patients, 363 (29.2%) were heterozygous (GC) for the p.His63Asp polymorphism and 30 (2.2%) were homozygous for the minor allele (GG). Patients with CC, GC, and GG polymorphisms did not significantly differ by age at onset, site of onset of symptoms, and survival; however, in SOD1 patients with CG or GG polymorphism had a significantly longer survival than those with a CC polymorphism. Differently from what observed in the mouse model of ALS, the HFE p.His63Asp polymorphism has no effect on ALS phenotype in this large series of Italian ALS patients.
Lingua originaleEnglish
pagine (da-a)2906.e7-2906.e7-11
RivistaNeurobiology of Aging
Volume36
DOI
Stato di pubblicazionePubblicato - 2015

Keywords

  • Amyotrophic lateral sclerosis
  • HFE polymorphisms
  • SOD1
  • phenotype
  • survival

Fingerprint

Entra nei temi di ricerca di 'HFE p.H63D polymorphism does not influence ALS phenotype and survival'. Insieme formano una fingerprint unica.

Cita questo