University of Pittsburgh- Kamboh

This study aims to investigate genetic variation associated with Alzheimer’s disease (AD) and AD-related phenotypes, including disease progression, age at onset, and survival. The study includes both whole-genome sequencing (WGS) and genome-wide association study (GWAS) data from individuals of non-Hispanic White ancestry with late-onset Alzheimer’s disease or related phenotypes.

The WGS component was performed using Illumina HiSeq X sequencing to characterize genome-wide variation, including both common and uncommon variants that may contribute to AD risk and disease-related phenotypes. The GWAS component includes approximately 2,440 individuals, comprising AD cases and cognitively normal controls. AD cases met established clinical criteria for probable or definite AD. Samples were genotyped using the Illumina HumanOmni1-Quad BeadChip, providing genome-wide genotype data across approximately one million SNPs. Standard quality-control procedures were applied to the GWAS dataset, with genotype data subsequently imputed using a reference panel. The resulting datasets provide complementary genomic information for investigating genetic factors associated with Alzheimer’s disease and related clinical outcomes.