In summary, our genome-wide study of the genetics of gene expression has identified one cis eQTL for sporadic ALS, which modulates CYP27A1 expression and additionally points to C9orf72 in the chromosome 9p21.2 locus as the gene involved in ALS pathogenesis. To further identify eQTLs relevant to ALS, the concomitant analysis of epigenetic and other level -omic data, e.g. proteomic or metabonomic can be used, as recently shown in a model organism [49]. These studies are preferably performed in ‘ALS target tissues’, including post-mortem central nervous system tissues and induced pluripotent stem cells differentiated to a neuronal or glial lineage. Such studies may provide us with more insight into novel pathogenic pathways and networks causal to this devastating disease.
