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

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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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Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis

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Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis

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