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 Mandrioli; Raffaella 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

doi:10.1016/j.neurobiolaging.2015.06.016

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 journal › Article › peer-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 language	English
Pages (from-to)	2906.e7-2906.e11
Journal	Neurobiology of Aging
Volume	36
Issue number	10
DOIs	https://doi.org/10.1016/j.neurobiolaging.2015.06.016
Publication status	Published - 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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10.1016/j.neurobiolaging.2015.06.016

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Chiò, A., Mora, G., Sabatelli, M., Caponnetto, C., Lunetta, C., Traynor, B. J., Johnson, J. O., Nalls, M. A., Calvo, A., Moglia, C., Borghero, G., Monsurrò, M. R., La Bella, V., Volanti, P., Simone, I., Salvi, F., Logullo, F. O., Nilo, R., Giannini, F., ... SARDINIALS consortium (2015). HFE p.H63D polymorphism does not influence ALS phenotype and survival. Neurobiology of Aging, 36(10), 2906.e7-2906.e11. https://doi.org/10.1016/j.neurobiolaging.2015.06.016

Chiò, A, Mora, G, Sabatelli, M, Caponnetto, C, Lunetta, C, Traynor, BJ, Johnson, JO, Nalls, MA, Calvo, A, Moglia, C, Borghero, G, Monsurrò, MR, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, FO, Nilo, R, Giannini, F, Mandrioli, J, Tanel, R, Murru, MR, Mandich, P, Zollino, M, Conforti, FL, Penco, S, Brunetti, M, Barberis, M, Restagno, G, Logroscino, G, Bartolomei, I, Capasso, M, Mancardi, G, Origone, P, Marinou, K , Sideri, R, Mosca, L, Pinter, GL, Corbo, M, Fini, N, Georgoulopoulou, E, Tremolizzo, L, Tedeschi, G, Trojsi, F, Piccirillo, G, Cristillo, V, Spataro, R, Colletti, T, Conte, A, Pisano, F, ITALSGEN consortium & SARDINIALS consortium 2015, 'HFE p.H63D polymorphism does not influence ALS phenotype and survival', Neurobiology of Aging, vol. 36, no. 10, pp. 2906.e7-2906.e11. https://doi.org/10.1016/j.neurobiolaging.2015.06.016

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title = "HFE p.H63D polymorphism does not influence ALS phenotype and survival",

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.",

keywords = "Amyotrophic lateral sclerosis, HFE polymorphisms, Phenotype, SOD1, Survival",

author = "Adriano Chi{\`o} and Gabriele Mora and Mario Sabatelli and Claudia Caponnetto and Christian Lunetta and Traynor, {Bryan J.} and Johnson, {Janel O.} and Nalls, {Mike A.} and Andrea Calvo and Cristina Moglia and Giuseppe Borghero and Monsurr{\`o}, {Maria Rosaria} and {La Bella}, Vincenzo and Paolo Volanti and Isabella Simone and Fabrizio Salvi and Logullo, {Francesco O.} and Riva Nilo and Fabio Giannini and Jessica Mandrioli and Raffaella Tanel and Murru, {Maria Rita} and Paola Mandich and Marcella Zollino and Conforti, {Francesca L.} and Silvana Penco and Maura Brunetti and Marco Barberis and Gabriella Restagno and Giancarlo Logroscino and Ilaria Bartolomei and Margherita Capasso and Gianluigi Mancardi and Paola Origone and Kalliopi Marinou and Riccardo Sideri and Lorena Mosca and Pinter, {Giuseppe Lauria} and Massimo Corbo and Nicola Fini and Eleni Georgoulopoulou and Lucio Tremolizzo and Gioacchino Tedeschi and Francesca Trojsi and Giovanni Piccirillo and Viviana Cristillo and Rossella Spataro and Tiziana Colletti and Amelia Conte and Fabrizio Pisano and {ITALSGEN consortium} and {SARDINIALS consortium}",

year = "2015",

month = oct,

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doi = "10.1016/j.neurobiolaging.2015.06.016",

language = "English",

volume = "36",

pages = "2906.e7--2906.e11",

journal = "Neurobiology of Aging",

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T1 - HFE p.H63D polymorphism does not influence ALS phenotype and survival

AU - Chiò, Adriano

AU - Mora, Gabriele

AU - Sabatelli, Mario

AU - Caponnetto, Claudia

AU - Lunetta, Christian

AU - Traynor, Bryan J.

AU - Johnson, Janel O.

AU - Nalls, Mike A.

AU - Calvo, Andrea

AU - Moglia, Cristina

AU - Borghero, Giuseppe

AU - Monsurrò, Maria Rosaria

AU - La Bella, Vincenzo

AU - Volanti, Paolo

AU - Simone, Isabella

AU - Salvi, Fabrizio

AU - Logullo, Francesco O.

AU - Nilo, Riva

AU - Giannini, Fabio

AU - Mandrioli, Jessica

AU - Tanel, Raffaella

AU - Murru, Maria Rita

AU - Mandich, Paola

AU - Zollino, Marcella

AU - Conforti, Francesca L.

AU - Penco, Silvana

AU - Brunetti, Maura

AU - Barberis, Marco

AU - Restagno, Gabriella

AU - Logroscino, Giancarlo

AU - Bartolomei, Ilaria

AU - Capasso, Margherita

AU - Mancardi, Gianluigi

AU - Origone, Paola

AU - Marinou, Kalliopi

AU - Sideri, Riccardo

AU - Mosca, Lorena

AU - Pinter, Giuseppe Lauria

AU - Corbo, Massimo

AU - Fini, Nicola

AU - Georgoulopoulou, Eleni

AU - Tremolizzo, Lucio

AU - Tedeschi, Gioacchino

AU - Trojsi, Francesca

AU - Piccirillo, Giovanni

AU - Cristillo, Viviana

AU - Spataro, Rossella

AU - Colletti, Tiziana

AU - Conte, Amelia

AU - Pisano, Fabrizio

AU - ITALSGEN consortium

AU - SARDINIALS consortium

PY - 2015/10/1

Y1 - 2015/10/1

N2 - 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.

AB - 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.

KW - Amyotrophic lateral sclerosis

KW - HFE polymorphisms

KW - Phenotype

KW - SOD1

KW - Survival

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DO - 10.1016/j.neurobiolaging.2015.06.016

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SN - 0197-4580

VL - 36

SP - 2906.e7-2906.e11

JO - Neurobiology of Aging

JF - Neurobiology of Aging

IS - 10

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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