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Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?

Authors
Journal
Neurobiology of Aging
0197-4580
Publisher
Elsevier
Publication Date
Volume
30
Issue
5
Identifiers
DOI: 10.1016/j.neurobiolaging.2007.08.008
Keywords
  • Amyotrophic Lateral Sclerosis
  • Erythropoietin
  • Genetic Risk Factor
  • Susceptibility
  • Motorneuron Degeneration
Disciplines
  • Biology
  • Medicine

Abstract

Abstract 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.

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