Table 1: Meta-data for each of the four studies.

From: Human whole genome genotype and transcriptome data for Alzheimer’s and other neurodegenerative diseases

Study Name Brief Description Study Cohort/Sample type N Cohort Characteristics Datatype Platform Reference
A. Mayo LOAD GWAS (Data Citation 2: Synapse http://dx.doi.org/10.7303/syn2910256) LOAD Case control GWAS. Uses samples from 3 cohorts: Total 2,099 subjects (Post-QC). This data is used to identify loci associated with LOAD risk. Mayo Clinic Jacksonville (JS)/Antemortem N=353 cases, 331 controls Clinical: AD Cases and Controls, collected at Mayo Clinic Jacksonville. Age at first diagnosis of AD or age at study entry: 60–80. LOAD GWAS Genotypes, demographics Illumina Hap 300 Carrasquillo et al.1, Nature Genetics
Mayo Clinic Rochester (RS)/Antemortem N=245 cases, 701 controls Clinical: AD Cases and Controls, collected at Mayo Clinic Rochester. Age at first diagnosis of AD or age at study entry: 60–80.
Mayo Clinic Brain Bank (AUT)/ Postmortem N=246 cases, 223 controls Post-mortem: AD Cases (Braak ≥4.0) and Other Pathologies (Braak ≤2.5). Age at death: 60–80.
B. Mayo eGWAS (Data Citation 3: Synapse http://dx.doi.org/10.7303/syn3157225,Data Citation 4: Synapse http://dx.doi.org/10.7303/syn3157249) WG-DASL gene expression measures for a subset of Mayo Brain Bank subjects that were included in the Mayo LOAD GWAS: RNA was isolated from two brain regions: TCX and CER. This data is utilized to identify loci associated with brain gene expression in subjects with AD, subjects with Other brain pathologies that do not meet criteria for AD (Non-AD), and the combined cohort. Mayo Brain Bank/Temporal Cortex N=202 AD, 197 Non-AD controls Post-mortem: AD Cases (Braak ≥4.0) and Other Pathologies (Braak ≤2.5). Age at death: 60–80. Gene expression phenotypes, eGWAS results, covariates Illumina WG-DASL Zou et al.10, PLoS Genetics
Mayo Brain Bank/Cerebellum N=197 AD, 177 Non-AD controls
C. Mayo Pilot RNAseq (Data Citation 5: Synapse http://dx.doi.org/10.7303/syn3157268) RNAseq gene expression measures for a subset of Mayo Brain Bank subjects that were included in the Mayo LOAD GWAS: RNA was isolated from TCX. This data is utilized to identify loci associated with brain gene expression in subjects with AD and subjects with PSP. Mayo Brain Bank/Temporal Cortex N=94 AD, 92 PSP Post-mortem: AD Cases (Braak ≥4.0) and pathologic diagnosis of PSP (Braak≤2.5). Age at death: 60–80. Gene expression phenotypes, covariates IlluminaHiSeq2000, 50 bp, paired end RNAseq Allen et al.18, Neurology:Genetics
D. Mayo RNAseq (Data Citation 6: Synapse http://dx.doi.org/10.7303/syn3163039,Data Citation 7: Synapse http://dx.doi.org/10.7303/syn5049298) RNAseq gene expression measures for subjects from the Mayo Brain Bank non-overlapping with the Mayo LOAD GWAS, and also from Banner Sun Health Institute. RNA was isolated from two brain regions: TCX and CER. This data is utilized to compare brain gene expression between different pairwise diagnostic groups. Mayo Brain Bank and Banner Sun Health/Temporal Cortex N=84 AD, 84 PSP, 30 pathologic aging, 80 controls Post-mortem: AD Cases (Braak ≥4.0), pathologic diagnoses of PSP (Braak≤3), pathologic aging (Braak≤3) and elderly control brains (Braak≤3) without neurodegenerative diagnoses. Age at death≤60. Gene expression phenotypes, covariates IlluminaHiSeq2000, 101 bp, paired end RNAseq NA
Mayo Brain Bank and Banner Sun Health/Cerebellum N=86 AD, 84 PSP, 28 pathologic aging, 80 controls