Of these unique cisSNP, those that associate with cerebellar levels of C9orf72 in non–ADs are interesting, as these variants were previously identified in GWAS of amyotrophic lateral sclerosis (ALS), where C9orf72 was one of the candidate genes at the disease locus [42], [43]. This gene was recently identified as the most common cause of familial ALS, with a repeat expansion leading to loss of an alternatively spliced transcript [44], [45]. These results further support the utility of the combined eGWAS and disease GWAS approaches in the potential identification of disease genes with modified transcript levels as the plausible disease mechanism.
