Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

@article{Zou2017GeneticEO,
  title={Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis},
  author={Zhang-Yu Zou and Zhi-rui Zhou and Chun-hui Che and Changyun Liu and Raoli He and Huapin Huang},
  journal={Journal of Neurology, Neurosurgery \& Psychiatry},
  year={2017},
  volume={88},
  pages={540 - 549}
}
Background Genetic studies have shown that C9orf72, SOD1, TARDBP and FUS are the most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a meta-analysis to determine the mutation frequencies of these major ALS-related genes in patients with ALS. Methods We performed an extensive literature research to identify all original articles reporting frequencies of C9orf72, SOD1, TARDBP and FUS mutations in ALS. The mutation frequency and effect size of each study were… 
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Phenotypic associations among ALS cases are confirmed, the contribution of genetic variation to all forms of ALS is highlighted, and the role of oligogenic or polygenic basis is highlighted.
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