NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis

Recently, NEK1 (NIMA-related kinase 1) mutations were identified as a cause of amyotrophic lateral sclerosis (ALS), but the relationship between them remains unclear owing to the small sample size and low mutation rate. We made a meta-analysis to make clear the relationship. Eight case-control studies involving 8603 cases and 18,695 controls were enrolled. Results demonstrated that the frequency of NEK1 mutations was 3.1% (95% CI 2.5–3.8%) in ALS patients, including the frequencies of loss of function (LoF) and missense mutations, which were 0.9% (95% CI 0.6–1.1%) and 2.3% (95% CI 1.7–2.8%) in ALS patients, respectively. NEK1 mutations (OR 2.14; 95% CI 1.81–2.52; p