Background

Amyotrophic lateral sclerosis (ALS), one of the motor neuron diseases, appears to be caused by genetic and environmental risk factors. However, the influence of Pro34Ser variant of CHCHD10 gene in increasing risk of ALS remains indeterminate. This study conducted a meta-analysis to establish the association between Pro34Ser variant of CHCHD10 gene and risk of ALS.

Methods

PubMed, Web of Science, and Embase databases were systematically searched for genome-wide association studies or case–control studies published up to March 28, 2020, on the association between Pro34Ser variant and risk of ALS. Data from eligible studies were extracted and analyzed.

Results

Twelve case–control studies involving 7442 patients with sporadic ALS and 75,371 controls were analyzed. The Pro34Ser variant was not associated with increased risk of ALS disease based on fixed-effects meta-analysis (Pro34Ser-positive vs Pro34Ser-negative: OR 1.23, 95% CI 0.90 to 1.69, P = 0.201).

Conclusion

Existing evidence suggests that Pro34Ser variant in CHCHD10 is not associated with risk of ALS, particularly in Caucasian participants. However, our results ought to be validated using large, well-designed studies, especially in Asian and African populations.

中文翻译：

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CHCHD10 Pro34Ser 变异与肌萎缩侧索硬化风险之间关联的 Meta 分析。

背景

肌萎缩侧索硬化症 (ALS) 是一种运动神经元疾病，似乎是由遗传和环境风险因素引起的。然而，CHCHD10基因的 Pro34Ser 变体对增加 ALS 风险的影响仍不确定。本研究进行了一项荟萃分析，以确定CHCHD10基因的 Pro34Ser 变体与 ALS 风险之间的关联。

方法

PubMed、Web of Science 和 Embase 数据库系统搜索了截至 2020 年 3 月 28 日发表的关于 Pro34Ser 变异与 ALS 风险之间关联的全基因组关联研究或病例对照研究。来自符合条件的研究的数据被提取和分析。

结果

分析了 12 项病例对照研究，涉及 7442 名散发性 ALS 患者和 75371 名对照。根据固定效应荟萃分析，Pro34Ser 变异与 ALS 疾病风险增加无关（Pro34Ser 阳性与 Pro34Ser 阴性：OR 1.23，95% CI 0.90 至 1.69，P  = 0.201）。

结论

现有证据表明，CHCHD10 中的 Pro34Ser 变异与ALS 风险无关，尤其是在白种人参与者中。然而，我们的结果应该通过精心设计的大型研究来验证，尤其是在亚洲和非洲人群中。