Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?

Serena Ghezzi, Roberto Del Bo, Marina Scarlato, Martina Nardini, Cecilia Carlesi, Alessandro Prelle, Stefania Corti, Michelangelo Mancuso, Chiara Briani, Gabriele Siciliano, Luigi Murri, Nereo Bresolin, Giacomo Pietro Comi

Research output: Contribution to journalArticlepeer-review


To investigate the role of erythropoietin (EPO) as genetic determinant in the susceptibility to sporadic amyotrophic lateral sclerosis (SALS). We sequenced a 259-bp region spanning the 3′hypoxia-responsive element of the EPO gene in 222 Italian SALS patients and 204 healthy subjects, matched for age and ethnic origin. No potentially causative variation was detected in SALS subjects; in addition, two polymorphic variants (namely C3434T and G3544T) showed the same genotype and haplotype frequencies in patients and controls. Conversely, a weak but significant association between G3544T and age of disease onset was observed (p = 0.04). Overall, our data argue against the hypothesis of EPO as a genetic risk factor for motor neuron dysfunction, at least in Italian population. However, further studies on larger cohort of patients are needed to confirm the evidence of EPO gene as modifier factor.

Original languageEnglish
Pages (from-to)842-844
Number of pages3
JournalNeurobiology of Aging
Issue number5
Publication statusPublished - May 2009


  • Amyotrophic lateral sclerosis
  • Erythropoietin
  • Genetic risk factor
  • Motorneuron degeneration
  • Susceptibility

ASJC Scopus subject areas

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


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