De Roeck A, et al. - Researchers gave a comprehensive evaluation of the literature on ATP-binding cassette, sub-family A, member 7 (ABCA7, a novel risk gene of Alzheimer disease [AD, one of the major medical challenges of our time]), with a focus on AD-related human -omics studies (e.g. genomics, transcriptomics, and methylomics). Indirect ABCA7 genome-wide association studies (GWAS) correlations were defined by the expansion of an ABCA7 variable number tandem repeat (VNTR), and a common premature termination codon (PTC) variant, respectively, in European and African American population. Rare ABCA7 PTC variants were greatly enriched in AD patients, while some of these had demonstrated inheritance patterns resembling autosomal dominant AD. In AD patients vs healthy controls, rare missense variants were more frequent, while a prevalent ABCA7 missense variant may shield from the disease. In the ABCA7 locus, methylation at several cytosine:guanine sites was significantly related to AD. Moreover ABCA7 had various isoforms and ABCA7 splicing had been exhibited to correlate with AD. These genetic and epigenetic ABCA7 markers also demonstrated important associations with AD endophenotypes, ie, in particular, amyloid deposition and brain morphology, besides relationships with disease status. Hence, human-based –omics studies provided converging evidence of (partial) ABCA7 loss as an AD pathomechanism but more studies should clarify whether interventions on ABCA7 expression could serve as a valuable therapeutic target for AD.