Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis

作者：Coppede Fabio^*; Migheli Francesca; Lo Gerfo Annalisa; Fabbrizi Maria Rita; Carlesi Cecilia; Mancuso Michelangelo; Corti Stefania; Mezzina Nicoletta; del Bo Roberto; Comi Giacomo P; Siciliano Gabriele; Migliore Lucia

来源：Amyotrophic Lateral Sclerosis, 2010, 11(1-2): 122-U30.

DOI：10.3109/17482960903220297

• Amyotrophic lateral sclerosis (ALS)
• XRCC1
• polymorphisms
• DNA repair
• base excision repair (BER)

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.</.

• 出版日期2010