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Alzheimer’s disease (AD) is a genetically complex disease for which nearly 40 loci have now been identified via genome-wide association studies (GWAS). We attempted to identify groups of rare variants (alternate allele frequency &lt;0.01) associated with AD in a region-based, whole-genome sequencing (WGS) association study (rvGWAS) of two independent AD family datasets (NIMH/NIA; 2247 individuals; 605 families). Employing a sliding window approach across the genome, we identified several regions that achieved association  p  values &lt;10 −6 , using the burden test or the SKAT statistic. The genomic region around the dystobrevin beta ( DTNB ) gene was identified with the burden and SKAT test and replicated in case/control samples from the ADSP study reaching genome-wide significance after meta-analysis ( p  meta  = 4.74 × 10 −8 ). SKAT analysis also revealed region-based association around the Discs large homolog 2 ( DLG2 ) gene and replicated in case/control samples from the ADSP study ( p  meta  = 1 × 10 −6 ). In conclusion, in a region-based rvGWAS of AD we identified two novel AD genes,  DLG2  and  DTNB , based on association with rare variants.

molecular psychiatry

Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer’s disease-associated genes: DTNB and DLG2