6533b82efe1ef96bd1293179
RESEARCH PRODUCT
HFE p.H63D polymorphism does not influence ALS phenotype and survival.
Adriano ChiòGabriele MoraMario SabatelliClaudia CaponnettoChristian LunettaBryan J. TraynorJanel O. JohnsonMike A. NallsAndrea CalvoCristina MogliaGiuseppe BorgheroVincenzo La BellaPaolo VolantiIsabella SimoneFabrizio SalviFrancesco O. LogulloRiva NiloFabio GianniniJessica MandrioliRaffaella TanelMaria Rita MurruPaola MandichMarcella ZollinoFrancesca Luisa ConfortiSilvana PencoMaura BrunettiMarco BarberisGabriella RestagnoGiancarlo LogroscinoIlaria BartolomeiMargherita CapassoGianluigi MancardiPaola OrigoneKalliopi MarinouRiccardo SideriLorena MoscaGiuseppe Lauria PinterMassimo CorboNicola FiniEleni GeorgoulopoulouLucio TremolizzoGiovanni PiccirilloViviana CristilloRossella SpataroTiziana CollettiAmelia ConteMarco LuigettiSerena LattanteGiuseppe MarangiMarialuisa SantarelliAntonio PetrucciStefania BattistiniClaudia RicciMichele BenigniFederico CasaleGiuseppe MarraliGiuseppe FudaIrene OssolaStefania CammarosanoAntonio IlardiDavide BertuzzoFabrizio PisanoEmanuela CostantinoCarla PaniRoberta PudduCarla CareddaValeria PirasStefania TranquilliStefania CuccuDaniela CorongiuMaurizio MelisAntonio MiliaFrancesco MarrosuMaria Giovanna MarrosuGianluca FlorisAntonino CannasAnna TiccaMaura PugliattiAngelo PirisiLeslie D. ParishPatrizia OcchineriEnzo OrtuTea B. CauDaniela LoiMaria Rosaria Monsurro'Gioacchino TedeschiFrancesca Trojsisubject
MaleAgingSurvivalSettore MED/03 - GENETICA MEDICAMiceSuperoxide Dismutase-1C9orf72HFE polymorphismAmyotrophic lateral sclerosisAmyotrophic lateral sclerosis; HFE polymorphisms; Phenotype; SOD1; Survival; Aged; Alleles; Amyotrophic Lateral Sclerosis; Animals; Disease Progression; Female; Hemochromatosis Protein; Histocompatibility Antigens Class I; Humans; Italy; Male; Membrane Proteins; Mice; Middle Aged; Polymorphism Genetic; Superoxide Dismutase; Superoxide Dismutase-1; Survival Rate; Genetic Association Studies; PhenotypeHFE polymorphismsMembrane ProteinAlleleAmyotrophic lateral sclerosis; HFE polymorphisms; Phenotype; SOD1; Survival; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and GerontologyGeneral NeuroscienceSOD1Middle AgedPhenotypeSurvival RatePhenotypeItalyAmyotrophic lateral sclerosis; HFE polymorphisms; SOD1; phenotype; survivalDisease ProgressionFemaleHumanmedicine.medical_specialtySOD1Amyotrophic lateral sclerosis; HFE polymorphisms; Phenotype; SOD1; Survival;Genetic Association StudieBiologyTARDBPArticleGeneticInternal medicinemedicineAnimalsHumansAllelePolymorphismHemochromatosis ProteinSurvival rateAmyotrophic lateral sclerosiAllelesGenetic Association StudiesAgedNeuroscience (all)Polymorphism GeneticAnimalSuperoxide DismutaseAmyotrophic Lateral SclerosisHistocompatibility Antigens Class Inutritional and metabolic diseasesMembrane Proteinsmedicine.diseaseMinor allele frequencyEndocrinologyImmunologyNeurology (clinical)Geriatrics and GerontologyDevelopmental Biologydescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2015-01-01 | Neurobiology of aging |