Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis
Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis
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DOI：
10.3109/17482960903220297
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发表时间：
2010-01-01
影响因子：
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通讯作者：
Migliore, Lucia
中科院分区：
文献类型：
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作者：
Coppede, Fabio;Migheli, Francesca;Migliore, Lucia
本研究的目的是探讨DNA修复蛋白X射线修复交叉互补组1（XRCC 1）中3种常见的功能多态性Arg 194 Trp（rs 1799782）、Arg 280 His（rs 25489）和Arg 399 Gln（rs 25487）与散发性肌萎缩侧索硬化症（SALS）的关系。我们通过PCR/RFLP技术对206名意大利SALS患者和203名匹配的对照进行了XRCC 1 Arg 194 Trp、Arg 280 His和Arg 399 Gln多态性的基因分型，寻找任何研究的多态性与疾病风险、年龄和发病部位之间的关联。我们观察到SALS病例和对照组之间XRCC 1 Gln 399等位基因频率的统计学显著差异（0.39/0.28; p=0.001）。本研究提示XRCC 1 Arg 399 Gln多态性可能与SALS风险有关。
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.