SMN1 gene, but not SMN2, is a risk factor for sporadic ALS
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS
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DOI：
10.1212/01.wnl.0000233830.85206.1e
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发表时间：
2006-10-10
期刊：
影响因子：
9.9
通讯作者：
Andres, C. R.
中科院分区：
文献类型：
--
作者：
Corcia, P.;Camu, W.;Andres, C. R.
背景：SMN1基因缺失导致脊髓性肌萎缩，SMN2基因缺失与散发性下运动神经元疾病相关。目的：研究SMN1基因拷贝数异常的频率，并确定SMN2基因是否调节肌萎缩侧索硬化（ALS）的风险或演变的持续时间。方法：采用定量PCR方法对600例散发性ALS患者和621例对照者的SMN1和SMN2基因进行检测。结果如下：作者发现ALS与SMN1基因拷贝数异常（1个或3个拷贝）相关（p < 0.0001），OR为2.8（1.8至4.4，95% CI）。与SMN2拷贝数无关，SMN2拷贝对ALS进展持续时间无影响，与SMN1拷贝数无关。结论：SMN1基因拷贝数异常是散发性肌萎缩侧索硬化症的遗传危险因素。SMN2基因没有调节作用。
Background: SMN1 gene deletions cause spinal muscular atrophy, and SMN2 gene deletions have been associated with sporadic lower motor neuron diseases. Objectives: To study the frequency of abnormal SMN1 gene copy numbers and to determine whether SMN2 gene modulates the risk of amyotrophic lateral sclerosis (ALS) or the duration of evolution. Method: The authors studied SMN1 and SMN2 genes in 600 patients with sporadic ALS and 621 controls using a quantitative PCR method. Results: The authors found an association of ALS with an abnormal copy number (one or three copies) of SMN1 gene (p < 0.0001) with an OR of 2.8 (1.8 to 4.4, 95% CI). There was no association with SMN2 copy numbers and no effect of SMN2 copies on the duration of evolution in ALS independently of SMN1 copy number. Conclusion: Abnormal SMN1 gene copy numbers are a genetic risk factor in sporadic amyotrophic lateral sclerosis. There was no modulator effect of the SMN2 gene.