Wang Xue-Bin, Cui Ning-Hua, Gao Jia-Jia, Qiu Xue-Ping, Zheng Fang
Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan 430071, Hubei, China.
Department of Clinical Laboratory, Zhengzhou Children's Hospital, Zhengzhou 450053, Henan, China.
J Neurol Sci. 2014 May 15;340(1-2):63-8. doi: 10.1016/j.jns.2014.02.026. Epub 2014 Feb 28.
To investigate the association between SMN1 and SMN2 copy number variations (CNVs) and sporadic amyotrophic lateral sclerosis (SALS) by a meta-analysis.
Through searching PubMed and EMBASE database (or manual searching) up to November 2013 using the following keywords: "survival motor neuron gene", "SMN", and "amyotrophic lateral sclerosis", "ALS" or "motor neuron disease". Nine studies were identified as eligible for this meta-analysis. The association between SMN genes and the SALS risk was investigated based on SMN1 and SMN2 CNVs. The heterogeneity across the studies was tested, as was publication bias.
The analysis showed significant association for SMN1 duplications in SALS risk: the risk estimates were OR=1.76, 95%CI=1.33-2.32, p<0.0001 (still significant when the p value was Bonferroni adjusted to 0.01). However, there was no significant association between SMN1 deletions and SALS risk after Bonferroni correction (OR=1.78, 95%CI=1.02-3.11, p=0.04). In addition, SMN2 copy number statuses were not associated with SALS in our pooled study. No evidence of publication bias was observed.
Our meta-analysis suggested that SMN1 duplications are a genetic risk factor in SALS, while there was no modulator effect of the SMN2 gene. In addition, it was possible that SMN1 deletions in predisposition to SALS vary across different countries. More studies were required to warrant the findings of this study.
通过荟萃分析研究生存运动神经元1（SMN1）和生存运动神经元2（SMN2）拷贝数变异（CNV）与散发性肌萎缩侧索硬化症（SALS）之间的关联。
截至2013年11月，通过检索PubMed和EMBASE数据库（或手动检索），使用以下关键词：“生存运动神经元基因”、“SMN”以及“肌萎缩侧索硬化症”、“ALS”或“运动神经元病”。确定了9项研究符合本荟萃分析的条件。基于SMN1和SMN2的CNV研究SMN基因与SALS风险之间的关联。检验了各研究之间的异质性以及发表偏倚。
分析显示SMN1重复与SALS风险存在显著关联：风险估计值为OR = 1.76，95%置信区间（CI）= 1.33 - 2.32，p < 0.0001（当p值经Bonferroni校正至0.01时仍具有显著性）。然而，经Bonferroni校正后，SMN1缺失与SALS风险之间无显著关联（OR = 1.78，95%CI = 1.02 - 3.11，p = 0.04）。此外，在我们的汇总研究中，SMN2拷贝数状态与SALS无关。未观察到发表偏倚的证据。
我们的荟萃分析表明，SMN1重复是SALS的一个遗传风险因素，而SMN2基因无调节作用。此外，不同国家中SMN1缺失在SALS易感性方面可能存在差异。需要更多研究来证实本研究的结果。
