ADSP Case/Control Association Results

~1.5 million single nucleotide variants (SNVs) and 50,000 insertion-deletion polymorphisms (indels) identified by the ADSP whole-exome sequencing project were tested for association to AD, using multiple models considering individual variants as well as gene-based tests aggregating rare, predicted functional, and loss of function variants. This dataset contain results for single variant and gene-based rare variant aggregation tests, performed separately by ancestry (European ancestry, Caribbean Hispanic) and meta-analyzed.

Accession: NG00065

Data Type: sequence feature annotation

Tracks or Datasets

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Track/Dataset Description Characteristics
ADSP Gene Risk: European (Model 2;CADD≥15) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with CADD score ≥15
ADSP Single-Variant Risk Association: European (Model 0) test for association between exonic ADSP variants and the risk of late-onset Alzheimer's disease (European); adjusted for PCs and sequencing center
ADSP Gene Risk: European (Model 0;CADD≥15) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs and sequencing center and filtered for variants with CADD score ≥15
ADSP Gene Risk: meta analysis (Model 1;VEP MOD-HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with MOD-HIGH predicted impact (VEP v80)
ADSP Single-Variant Risk Association: European (Model 1) test for association between exonic ADSP variants and the risk of late-onset Alzheimer's disease (European); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls)
ADSP Gene Risk: European (Model 1;VEP MOD-HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with MOD-HIGH predicted impact (VEP v80)
ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 0) test for association between exonic ADSP variants and the risk of late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs and sequencing center
ADSP Gene Risk: Caribbean Hispanic (Model 2;LOF) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with predicted Loss of Function (LOF) impact (SnpEff)
ADSP Gene Risk: meta analysis (Model 2;VEP MOD-HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with MOD-HIGH predicted impact (VEP v80)
ADSP Gene Risk: Caribbean Hispanic (Model 0;VEP MOD-HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs and sequencing center and filtered for variants with MOD-HIGH predicted impact (VEP v80)
ADSP Gene Risk: meta analysis (Model 1;VEP HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with HIGH predicted impact (VEP v80)
ADSP Gene Risk: meta analysis (Model 0;VEP MOD-HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs and sequencing center and filtered for variants with MOD-HIGH predicted impact (VEP v80)
ADSP Gene Risk: European (Model 2;LOF) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with predicted Loss of Function (LOF) impact (SnpEff)
ADSP Gene Risk: Caribbean Hispanic (Model 0;VEP HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs and sequencing center and filtered for variants with HIGH predicted impact (VEP v80)
ADSP Gene Risk: Caribbean Hispanic (Model 1;VEP HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with HIGH predicted impact (VEP v80)
ADSP Gene Risk: meta analysis (Model 0;CADD≥15) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs and sequencing center and filtered for variants with CADD score ≥15
ADSP Gene Risk: meta analysis (Model 1;CADD≥15) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with CADD score ≥15
ADSP Gene Risk: European (Model 2;CADD≥20) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with CADD score ≥20
ADSP Gene Risk: meta analysis (Model 2;LOF) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with predicted Loss of Function (LOF) impact (SnpEff)
ADSP Gene Risk: European (Model 1;CADD≥15) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with CADD score ≥15
ADSP Gene Risk: meta analysis (Model 0;CADD≥20) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs and sequencing center and filtered for variants with CADD score ≥20
ADSP Single-Variant Risk Association: meta analysis (Model 0) test for association between exonic ADSP variants and the risk of late-onset Alzheimer's disease (meta analysis); adjusted for PCs and sequencing center
ADSP Gene Risk: European (Model 0;LOF) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs and sequencing center and filtered for variants with predicted Loss of Function (LOF) impact (SnpEff)
ADSP Gene Risk: Caribbean Hispanic (Model 2;VEP MOD-HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with MOD-HIGH predicted impact (VEP v80)
ADSP Gene Risk: European (Model 2;VEP MOD-HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with MOD-HIGH predicted impact (VEP v80)
ADSP Gene Risk: Caribbean Hispanic (Model 2;CADD≥20) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with CADD score ≥20
ADSP Gene Risk: Caribbean Hispanic (Model 1;CADD≥20) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with CADD score ≥20
ADSP Gene Risk: Caribbean Hispanic (Model 1;VEP MOD-HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with MOD-HIGH predicted impact (VEP v80)
ADSP Gene Risk: European (Model 1;VEP HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with HIGH predicted impact (VEP v80)
ADSP Gene Risk: Caribbean Hispanic (Model 0;LOF) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs and sequencing center and filtered for variants with predicted Loss of Function (LOF) impact (SnpEff)
ADSP Gene Risk: Caribbean Hispanic (Model 1;CADD≥15) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with CADD score ≥15
ADSP Gene Risk: Caribbean Hispanic (Model 0;CADD≥20) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs and sequencing center and filtered for variants with CADD score ≥20
ADSP Gene Risk: European (Model 1;CADD≥20) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with CADD score ≥20
ADSP Single-Variant Risk Association: meta analysis (Model 2) test for association between exonic ADSP variants and the risk of late-onset Alzheimer's disease (meta analysis); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes
ADSP Gene Risk: meta analysis (Model 0;LOF) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs and sequencing center and filtered for variants with predicted Loss of Function (LOF) impact (SnpEff)
ADSP Gene Risk: meta analysis (Model 2;CADD≥15) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with CADD score ≥15
ADSP Gene Risk: meta analysis (Model 2;CADD≥20) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with CADD score ≥20
ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1) test for association between exonic ADSP variants and the risk of late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls)
ADSP Gene Risk: Caribbean Hispanic (Model 2;CADD≥15) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with CADD score ≥15
ADSP Gene Risk: Caribbean Hispanic (Model 1;LOF) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with predicted Loss of Function (LOF) impact (SnpEff)
ADSP Gene Risk: European (Model 0;VEP HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs and sequencing center and filtered for variants with HIGH predicted impact (VEP v80)
ADSP Gene Risk: European (Model 2;VEP HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with HIGH predicted impact (VEP v80)
ADSP Gene Risk: European (Model 1;LOF) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with predicted Loss of Function (LOF) impact (SnpEff)
ADSP Gene Risk: meta analysis (Model 2;VEP HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with HIGH predicted impact (VEP v80)
ADSP Single-Variant Risk Association: meta analysis (Model 1) test for association between exonic ADSP variants and the risk of late-onset Alzheimer's disease (meta analysis); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls)
ADSP Gene Risk: Caribbean Hispanic (Model 0;CADD≥15) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs and sequencing center and filtered for variants with CADD score ≥15
ADSP Gene Risk: European (Model 0;CADD≥20) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs and sequencing center and filtered for variants with CADD score ≥20
ADSP Gene Risk: meta analysis (Model 0;VEP HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs and sequencing center and filtered for variants with HIGH predicted impact (VEP v80)
ADSP Gene Risk: European (Model 0;VEP MOD-HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (European); adjusted for PCs and sequencing center and filtered for variants with MOD-HIGH predicted impact (VEP v80)
ADSP Single-Variant Risk Association: European (Model 2) test for association between exonic ADSP variants and the risk of late-onset Alzheimer's disease (European); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes
ADSP Gene Risk: meta analysis (Model 1;CADD≥20) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with CADD score ≥20
ADSP Gene Risk: meta analysis (Model 1;LOF) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (meta analysis); adjusted for PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) and filtered for variants with predicted Loss of Function (LOF) impact (SnpEff)
ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 2) test for association between exonic ADSP variants and the risk of late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes
ADSP Gene Risk: Caribbean Hispanic (Model 2;VEP HIGH) optimized kernel-regression-based test (SKAT-O) for association between gene-colocated sets of rare exonic ADSP variants and late-onset Alzheimer's disease (Caribbean Hispanic); adjusted for PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes and filtered for variants with HIGH predicted impact (VEP v80)