دورية أكاديمية
HFE p.H63D polymorphism does not influence ALS phenotype and survival
| العنوان: | HFE p.H63D polymorphism does not influence ALS phenotype and survival |
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| المؤلفون: | Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Lunetta, Christian, Traynor, Bryan J., Johnson, Janel O., Nalls, Mike A., Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Monsurrò, Maria Rosaria, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O., Nilo, Riva, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria R. Ita, Mandich, Paola, Zollino, Marcella, Conforti, Francesca L., Penco, Silvana, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Logroscino, G., Bartolomei, I., Capasso, M., Mancardi, G., Origone, P., Marinou, K., Sideri, R., Mosca, L., G. LAURIA PINTER, G. , Corbo, M. , Fini, N. , Georgoulopoulou, E. , Tremolizzo, L. , Tedeschi, G. , Trojsi, F. , Piccirillo, G. , Cristillo, V. , Spataro, R. , Colletti, T. , Conte, A. , Luigetti, M. , Lattante, S. , Marangi, G. , Santarelli, M. , Petrucci, A. , Battistini, S. , Ricci, C. , Benigni, M. , Casale, F. , Marrali, G. , Fuda, G. , Ossola, I. , Cammarosano, S. , Ilardi, A. , Bertuzzo, D. , Pisano, F. , Costantino, E. , Pani, C. , Puddu, R. , Caredda, C. , Piras, V. , Tranquilli, S. , Cuccu, S. , Corongiu, D. , Melis, M. , Milia, A. , Marrosu, F. , Marrosu, M. G. , Floris, G. , Cannas, A. , Ticca, A. , Pugliatti, M. , Pirisi, A. , Parish, L. D. , Occhineri, P. , Ortu, E. , Cau, T. B. , Loi, D. |
| المساهمون: | C. Adriano, M. Gabriele, S. Mario, C. Claudia, L. Christian, T. Bryan J., J. Janel O., N. Mike A., C. Andrea, M. Cristina, B. Giuseppe, M. Maria Rosaria, L.B. Vincenzo, V. Paolo, S. Isabella, S. Fabrizio, L. Francesco O., N. Riva, G. Fabio, M. Jessica, T. Raffaella, M. Maria R. Ita, M. Paola, Z. Marcella, C. Francesca L., P. Silvana, B. Maura, B. Marco, R. Gabriella, L. G., B. I., C. M., M. G., O. P., M. K., S. R., M. L., G. LAURIA PINTER, G. Corbo, M. Fini, N. Georgoulopoulou, E. Tremolizzo, L. Tedeschi, G. Trojsi, F. Piccirillo, G. Cristillo, V. Spataro, R. Colletti, T. Conte, A. Luigetti, M. Lattante, S. Marangi, G. Santarelli, M. Petrucci, A. Battistini, S. Ricci, C. Benigni, M. Casale, F. Marrali, G. Fuda, G. Ossola, I. Cammarosano, S. Ilardi, A. Bertuzzo, D. Pisano, F. Costantino, E. Pani, C. Puddu, R. Caredda, C. Pira, V. Tranquilli, S. Cuccu, S. Corongiu, D. Meli, M. Milia, A. Marrosu, F. Marrosu, M.G. Flori, G. Canna, A. Ticca, A. Pugliatti, M. Pirisi, A. Parish, L.D. Occhineri, P. Ortu, E. Cau, T.B. Loi |
| بيانات النشر: | Elsevier |
| سنة النشر: | 2015 |
| المجموعة: | The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| مصطلحات موضوعية: | amyotrophic lateral sclerosi, hfe polymorphism, phenotype, sod1, survival, aged, allele, animal, disease progression, female, hemochromatosis protein, histocompatibility antigens class i, human, italy, male, membrane protein, mice, middle aged, polymorphism, genetic, superoxide dismutase, superoxide dismutase-1, survival rate, genetic association studie, neuroscience (all), aging, developmental biology, geriatrics and gerontology, neurology (clinical, Settore MED/26 - Neurologia |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/26174855; info:eu-repo/semantics/altIdentifier/wos/WOS:000360929100033; volume:36; issue:10; firstpage:2906.e7; lastpage:2906.e11; numberofpages:5; journal:NEUROBIOLOGY OF AGING; http://hdl.handle.net/2434/530572Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84940962562 |
| DOI: | 10.1016/j.neurobiolaging.2015.06.016 |
| الإتاحة: | https://doi.org/10.1016/j.neurobiolaging.2015.06.016Test http://hdl.handle.net/2434/530572Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.A55B7B1F |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.neurobiolaging.2015.06.016 |
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