Here, eQTL and mQTL analyses indicated that the risk-increasing effects of the common variants were mediated through both eQTL and mQTL effects on NEK1 and TBK1. Furthermore, a polymorphic STR downstream of NEK1 was associated with increased ALS risk (motif, TTTA; threshold = 10 repeat units, expanded allele frequency = 0.51, P = 5.2 × 10−5, false discovery rate (FDR) = 4.7 × 10−4; Extended Data Fig. 4). This evidence concerns the gene NEK1 and amyotrophic lateral sclerosis.