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

Adriano Chiò, Gabriele Mora, Mario Sabatelli, 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 Simone, Fabrizio Salvi, Francesco O. Logullo, Riva Nilo, Fabio Giannini, Jessica MandrioliRaffaella Tanel, Maria Rita Murru, Paola Mandich, Marcella Zollino, 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, Amelia Conte, Fabrizio Pisano, ITALSGEN consortium, SARDINIALS consortium

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)2906.e7-2906.e11
JournalNeurobiology of Aging
Volume36
Issue number10
DOIs
Publication statusPublished - Oct 1 2015

Keywords

  • Amyotrophic lateral sclerosis
  • HFE polymorphisms
  • Phenotype
  • SOD1
  • Survival

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Ageing
  • Developmental Biology
  • Geriatrics and Gerontology

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