title: Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis.
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.
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Italy. f.coppede@geog.unipi.it <f.coppede@geog.unipi.it>
authors.forename: Fabio
authors.initials: F
authors.lastname: Coppedè
authors.forename: Francesca
authors.initials: F
authors.lastname: Migheli
authors.forename: Annalisa
authors.initials: A
authors.lastname: Lo Gerfo
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Fabbrizi
authors.forename: Cecilia
authors.initials: C
authors.lastname: Carlesi
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Stefania
authors.initials: S
authors.lastname: Corti
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Mezzina
authors.forename: Roberto
authors.initials: R
authors.lastname: del Bo
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.forename: Lucia
authors.initials: L
authors.lastname: Migliore
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors; D000076105:X-ray Repair Cross Complementing Protein 1
chemical_list: D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human