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Amyotrophic Lateral Sclerosis Volume 11, 2010 - Issue 1-2
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Original Article

Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis

Fabio Coppedè Department of Neuroscience, Neurological Clinic, University of Pisa,Correspondence[email protected]
,
Francesca Migheli Department of Human and Environmental Sciences, University of Pisa, Pisa
,
Annalisa Lo Gerfo Department of Neuroscience, Neurological Clinic, University of Pisa,
,
Maria Rita Fabbrizi Department of Human and Environmental Sciences, University of Pisa, Pisa
,
Cecilia Carlesi Department of Neuroscience, Neurological Clinic, University of Pisa,
,
Michelangelo Mancuso Department of Neuroscience, Neurological Clinic, University of Pisa,
,
Stefania Corti Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS, Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy
,
Nicoletta Mezzina Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS, Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy
,
Roberto del Bo Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS, Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy
,
Giacomo P. Comi Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS, Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy
,
Gabriele Siciliano Department of Neuroscience, Neurological Clinic, University of Pisa,
&
Lucia Migliore Department of Human and Environmental Sciences, University of Pisa, Pisa
 show all
Pages 122-124 | Received 09 Jul 2009, Accepted 28 Jul 2009, Published online: 26 Feb 2010
 
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Abstract

The aim of the present study was to investigate the possible contribution of three common functional polymorphisms in the DNA repair protein X-ray repair cross-complementing group 1 (XRCC1), namely Arg194Trp (rs1799782), Arg280His (rs25489) and Arg399Gln (rs25487), to sporadic amyotrophic lateral sclerosis (SALS). We genotyped 206 Italian SALS patients and 203 matched controls for XRCC1 Arg194Trp, Arg280His and Arg399Gln polymorphisms by means of PCR/RFLP technique, searching for association between any of the studied polymorphisms and disease risk, age and site of onset. We observed a statistically significant difference in XRCC1 Gln399 allele frequencies between SALS cases and controls (0.39/0.28; p=0.001). The present study suggests that the XRCC1 Arg399Gln polymorphism might contribute to SALS risk.

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