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.

Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis / F. Coppedè, F. Migheli, A. Lo Gerfo, M.R. Fabbrizi, C. Carlesi, M. Mancuso, S.P. Corti, N. Mezzina, R. Del Bo, G.P. Comi, G. Siciliano, L. Migliore. - In: AMYOTROPHIC LATERAL SCLEROSIS. - ISSN 1748-2968. - 11:1/2(2010), pp. 122-124. [10.3109/17482960903220297]

Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis

M. Mancuso;S.P. Corti;N. Mezzina;R. Del Bo;G.P. Comi;
2010

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.
Amyotrophic lateral sclerosis (ALS); Base excision repair (BER); DNA repair; Polymorphisms; XRCC1
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/70939
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