title: Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?
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.
authors: Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Padiglione Ponti. Via F. Sforza 35, 20122 Milano, Italy.
authors: Serena
authors: S
authors: Ghezzi
authors: Roberto
authors: R
authors: Del Bo
authors: Marina
authors: M
authors: Scarlato
authors: Martina
authors: M
authors: Nardini
authors: Cecilia
authors: C
authors: Carlesi
authors: Alessandro
authors: A
authors: Prelle
authors: Stefania
authors: S
authors: Corti
authors: Michelangelo
authors: M
authors: Mancuso
authors: Chiara
authors: C
authors: Briani
authors: Gabriele
authors: G
authors: Siciliano
authors: Luigi
authors: L
authors: Murri
authors: Nereo
authors: N
authors: Bresolin
authors: Giacomo Pietro
authors: GP
authors: Comi
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004921:Erythropoietin / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D004921:Erythropoietin