Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?
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.
Ghezzi
Serena
S
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.
Del Bo
Roberto
R
Scarlato
Marina
M
Nardini
Martina
M
Carlesi
Cecilia
C
Prelle
Alessandro
A
Corti
Stefania
S
Mancuso
Michelangelo
M
Briani
Chiara
C
Siciliano
Gabriele
G
Murri
Luigi
L
Bresolin
Nereo
N
Comi
Giacomo Pietro
GP
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*
D005819:Genetic Markers; D004921:Erythropoietin