Evidence map›Paper›PMID 26174855›Full record

ArticleNeurobiology of aging2015

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 and 21 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of aging, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 29% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. HFE Mutations in Neurodegenerative Disease as a Model of Hormesis.International journal of molecular sciences · 2024
    Review
  3. TheBiomedicines · 2023
    Article
  4. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

31 authors at 20 institutions in 2 countries.

Adriano ChiòALS Center, "Rita Levi Montalcini" Department of Neuroscience, Neurology II, University of Torino, Torino, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza, Torino, Italy. Electronic address: achio@usa.net.
Gabriele MoraDepartment of Neurological Rehabilitation, Fondazione Salvatore Maugeri, IRCCS, Istituto Scientifico di Milano, Milan, Italy.
Mario SabatelliNeurological Institute, Catholic University and I.C.O.M.M. Association for ALS Research, Rome, Italy.
Claudia CaponnettoDepartment of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, IRCCS Azienda Ospedaliero-Universitaria San Martino IST, University of Genoa, Genoa, Italy.
Christian LunettaNEuroMuscular Omnicenter, Serena Onlus Foundation, Milan, Italy.
Bryan J TraynorNeuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Janel O JohnsonNeuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Neurology, Neurological Institute, Neuromuscular Center, Cleveland Clinic, Cleveland, OH, USA.
Mike A NallsMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Andrea CalvoALS Center, "Rita Levi Montalcini" Department of Neuroscience, Neurology II, University of Torino, Torino, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza, Torino, Italy.
Cristina MogliaALS Center, "Rita Levi Montalcini" Department of Neuroscience, Neurology II, University of Torino, Torino, Italy.
Giuseppe BorgheroDepartment of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Maria Rosaria MonsurròDepartment of Neurological Sciences, Second University of Naples, Naples, Italy.
Vincenzo La BellaALS Clinical Research Center, Department of Experimental Biomedicine and Clinical Neuroscience, University of Palermo, Palermo, Italy.
Paolo VolantiNeurorehabilitation Unit/ALS Center, Salvatore Maugeri Foundation, IRCCS, Scientific Institute of Mistretta, Mistretta, Italy.
Isabella SimoneDepartment of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy.
Fabrizio SalviCenter for Diagnosis and Cure of Rare Diseases, Department of Neurology, IRCCS Institute of Neurological Sciences, Bologna, Italy.
Francesco O LogulloNeurological Clinic, Marche Polytechnic University, Ancona, Italy.
Riva NiloDepartment of Neurology and Institute of Experimental Neurology (INSPE), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Fabio GianniniDepartment of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
Jessica MandrioliDepartment of Neuroscience, S. Agostino- Estense Hospital, University of Modena and Reggio Emilia, Modena, Italy.
Raffaella TanelDepartment of Neurology, Santa Chiara Hospital, Trento, Italy.
Maria Rita MurruMultiple Sclerosis Centre, ASL 8, Cagliari/Department of Public Health, Clinical and Molecular Medicine, University of Cagliari, Cagliari, Italy.
Paola MandichDepartment of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, IRCCS Azienda Ospedaliero-Universitaria San Martino IST, University of Genoa, Genoa, Italy.
Marcella ZollinoInstitute of Medical Genetics, Catholic University of Sacred Heart, Rome, Italy.
Francesca L ConfortiInstitute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
Silvana PencoDepartment of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy.
ITALSGEN consortium
SARDINIALS consortium
Maura BrunettiALS Center, "Rita Levi Montalcini" Department of Neuroscience, Neurology II, University of Torino, Torino, Italy; Laboratory of Molecular Genetics, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza, Torino, Italy.
Marco BarberisALS Center, "Rita Levi Montalcini" Department of Neuroscience, Neurology II, University of Torino, Torino, Italy; Laboratory of Molecular Genetics, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza, Torino, Italy.
Gabriella RestagnoLaboratory of Molecular Genetics, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza, Torino, Italy.
University of Turin · ITFondazione Salvatore Maugeri · ITNational Institutes of Health · USAssociazione Italiana Vulvodinia Onlus · ITAzienda Ospedaliera Citta' della Salute e della Scienza di Torino · ITAzienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda · ITCleveland Clinic · USInstitute of Neurological Sciences · ITIstituto di Ricovero e Cura a Carattere Scientifico San RaffaeleMarche Polytechnic University · ITNational Research Council · ITOspedale Policlinico San Martino · ITOspedale Santa Chiara · ITUniversità Cattolica del Sacro Cuore · ITUniversity of Bari Aldo Moro · ITUniversity of Cagliari · ITUniversity of Genoa · ITUniversity of Modena and Reggio Emilia · ITUniversity of Naples Federico II · ITUniversity of Palermo · IT

Funding

Genome wide SNP analysis in Amyotrophic Lateral SclerosisZIAAG000933 · NIA · NATIONAL INSTITUTE ON AGING · PI TRAYNOR, BRYAN · 2009 to 2025
$9.8M
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
Intramural NIH HHS Z01 AG000949Intramural NIH HHS ZIA AG000933
6 · The paper itself

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.

Indexed as

Genetic Association StudiesPhenotypeAgedAllelesAmyotrophic Lateral SclerosisAnimalsDisease ProgressionFemaleHemochromatosis ProteinHistocompatibility Antigens Class IHumansItalyMaleMembrane ProteinsMiceMiddle AgedHemochromatosis ProteinHFE protein, humanHistocompatibility Antigens Class IMembrane ProteinsSOD1 protein, humanSod1 protein, mouseSuperoxide DismutaseSuperoxide Dismutase-1Amyotrophic lateral sclerosisHFE polymorphismsphenotypeSOD1survival

Identifiers

PMID26174855
PMCPMC5183653
OpenAlexW1681647714

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.