Alzheimer's Disease GWAS Summary Data (Bellenguez)
Access
Controlled access. Request data access on the AD Knowledge Portal; you need a Synapse account. See How to get the data.
| Where | ID | Access | What you get |
|---|---|---|---|
| Synapse | syn69670625 | Controlled | Files described below |
Other Synapse IDs on this page syn69670630 syn69865816 syn69865824 syn70095142 syn70095143
pip install synapseclient
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synapse get -r syn69670625Contact
Oluwatosin Olayinka, Hao Sun and Rui Dong
Source files
The summary statistics are held on the Columbia University (CU) cluster. A related meta-analysis of GR@ACE, IGAP and UKB is publicly available in de Rojas 2021, Nature Communications.
Download source
The data are derived from the summary statistics of Bellenguez et al..
The cohort-specific data were obtained on request in early 2024 and uploaded to the Columbia University cluster in March 2024.
File Schema
chromosome: chromosome IDposition: hg38 positionref: hg38 reference allelealt: alternative effect allelevariant: variant ID in the formchr${chromosome}_${position}_${ref}_${alt}beta: SNP effect sizese: standard error ofbetapvalue: p-value ofbetaestimatemaf: minor allele frequencyn_cases: number of cases for estimaten_controls: number of controls for estimateoriginal_effect_allele_frequency: allele frequency of the original effect allele
Links to GWAS data analysis notebooks
- GWAS summary statistics processing: https://github.com/cumc/fungen-xqtl-analysis/blob/main/analysis/Wang_Columbia/GWAS/AD_GWAS_processing.ipynb
Cohorts included in this study
111,326 clinically diagnosed/proxy AD cases + 677,663 controls
- Stage I: 39,106 clinically diagnosed AD cases + 46,828 proxy-ADD cases + 401,577 controls
- Stage II: 25,392 AD cases + 276,086 controls
cohorts:
- EADB: The European Alzheimer & Dementia Biobank (15 European countries). Also called
EADB-TOPMedandEADB-core. 21,101,680 variants in sum.stats. - EADI: European Alzheimer’s Disease Initiative. 12,540,914 variants in sum.stats.
- UKBB: UK Biobank. We have the genotype and imputed variants ourselves.
- GR@ACE: the Genome Research at Fundació ACE. 61,744,410 variants in sum.stats.
- GERAD/PERADES
- DemGene
- Bonn
- the Rotterdam study
- the CCHS study
- NxC
- FinnGen:
- R6 includes 147,061 females and 113,344 males, and the one that Bellenguez paper used should be
R6/AD_WIDE(N=7,329 cases and N=252,879 controls). - R10 is the latest version (until 20240222), including 230,310 females and 181,871 males.
- R6 includes 147,061 females and 113,344 males, and the one that Bellenguez paper used should be
Supplementary Table 1: Demographic descriptions of the different meta-analyzed GWAS, including a description of EADB per country
| AD or proxy-ADD cases | Controls | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| N | % females | Age | Age at onset | APOE e4 allele frequency | N | % females | Age | APOE e4 allele frequency | ||
| DISCOVERY | ||||||||||
| EADB-TOPMed | 20,301 | 61.7 | 72.0±10.4 | 71.1±10.5 | 32.6 | 21,839 | 57.3 | 67.0±14.3 | 13.2 | |
| Belgium | 1,230 | 64.6 | 78.7±5.9 | 78.3±5.9 | 31.6 | 1,474 | 61.8 | 70.1±8.4 | 13.6 | |
| Bulgaria | 164 | 54.9 | 65.1±8.6 | 65.1±8.6 | 22.9 | - | - | - | - | |
| Switzerland | 182 | 64.3 | 76.0±6.5 | 76.9±6.0 | 19.2 | 388 | 55.9 | 74.8±4.0 | 10.1 | |
| Czech Republic | 183 | 60.7 | 75.8±7.8 | - | 31.7 | 61 | 65.6 | 66.9±7.2 | 10.7 | |
| Denmark | 403 | 57.1 | 79.6±7.8 | 79.6±7.8 | 33.7 | 654 | 54.4 | 73.1±8.5 | 15.4 | |
| Spain | 3,273 | 67.0 | 75.3±9.0 | 75.2±9.0 | 27.2 | 1,685 | 63.3 | 69.3±12.0 | 10.0 | |
| Finland | 1,151 | 64.0 | 70.9±8.8 | 69.8±8.5 | 42.0 | 1,806 | 51.4 | 71.8±7.1 | 15.9 | |
| France | 1,664 | 60.2 | 67.4±11.9 | 63.2±10.8 | 33.3 | 3,106 | 63.8 | 44.9±15.4 | 11.5 | |
| Germany | 1,628 | 60.3 | 74.8±9.4 | 74.6±9.8 | 33.1 | 2,050 | 56.0 | 74.2±8.0 | 12.3 | |
| Greece | 614 | 63.0 | 73.1±8.0 | 72.9±7.9 | 23.8 | 1,246 | 57.3 | 73.1±5.6 | 9.1 | |
| Italy | 3,271 | 68.1 | 73.7±8.9 | 72.2±8.7 | 25.0 | 1,317 | 56.8 | 72.2±10.5 | 8.6 | |
| The Netherlands | 2,438 | 55.8 | 66.2±10.7 | 65.6±10.5 | 41.9 | 2,389 | 47.5 | 60.1±12.0 | 17.9 | |
| Portugal | 80 | 75.0 | 69.9±9.2 | 69.2±8.9 | 30.0 | 74 | 75.7 | 67.2±6.8 | 17.6 | |
| Sweden | 1,533 | 62.9 | 72.8±11.2 | 72.8±11.2 | 40.7 | 3,089 | 61.8 | 70.6±9.8 | 15.6 | |
| United Kingdom | 2,487 | 51.1 | 68.0±10.7 | 66.4±10.1 | 34.4 | 2,500 | 51.8 | 74.4±7.2 | 12.8 | |
| EADB-HRC | 163 | 54.0 | 71.5±7.9 | 71.5±7.9 | 31.8 | 405 | 48.1 | 77.2±2.1 | 14.1 | |
| EADI | 2,400 | 65.6 | 74.3±10.1 | 73.9±10.2 | 29.4 | 6,338 | 60.3 | 80.0±7.6 | 10.5 | |
| GERAD | 3,030 | 63.2 | 78.1±9.3 | 78.1±9.3 | 35.1 | 7,153 | 52.0 | 50.7±11.7 | 15.4 | |
| Bonn | 635 | 65.5 | 77.8±9.8 | 77.8±9.8 | 30.1 | 1,210 | 54.8 | 69.9±9.3 | 12.6 | |
| RS1 | 1,165 | 72.9 | 83.7±0.2 | 83.7±0.2 | 33.4 | 4,739 | 56.7 | 82.8±0.1 | 12.9 | |
| RS2 | 141 | 59.6 | 82.8±0.6 | 82.8±0.6 | 27.1 | 1,961 | 54.1 | 73.3±0.2 | 14.1 | |
| GR@ACE/DEGESCO | 6,497 | 64.1 | 81.8±8.8 | 81.8±8.8 | 23.0 | 6,785 | 49.1 | 55.9±15.8 | 11.0 | |
| DemGene | 1,693 | 65.5 | 72.2±8.8 | 71.6±8.8 | 39.5 | 5,926 | 47.7 | 68.5±11.1 | 18.2 | |
| CCHS | 365 | 68.5 | 82.7±6.9 | 82.7±6.9 | 31.4 | 6,106 | 54.3 | 58.5±13.7 | 15.8 | |
| NxC | 269 | 72.4 | 78.7±6.9 | 78.7±6.9 | 26.0 | 675 | 44.4 | 51.9±8.9 | 10.0 | |
| UKBB-P | 49,275 | 57.3 | 59.3±6.7 | - | 22.6 | 338,440 | 56.0 | 55.8±8.2 | 14.0 | |
| REPLICATION | ||||||||||
| ADGC | 17,141 | 57.3 | 78.6±8.1 | 73.4±8.0 | 37.7 | 17,627 | 58.8 | 75.8±8.1 | 14.4 | |
| CHARGE | ||||||||||
| CHS | 450 | 66.0 | - | 81.9±5.2 | 34.0 | 1,702 | 60.0 | 81.1±5.0 | 20.0 | |
| FHS | 472 | 68.0 | - | 84.5±7.3 | 18.5 | 3,878 | 54.0 | 74.4±10.8 | 11.0 | |
| FinnGen | 7,329 | 48.8 | 82.2±7.4* | 78.0±7.6 | 31.6 | 252,879 | 56.7 | 59.3±17.4* | 17.8 | |
| *age at death or current age | ||||||||||
| total | 111,326 | 677,663 |
AD GWAS–xQTL Integration
AD GWAS–xQTL colocalization results (ColocBoost): syn69865816
AD GWAS–xQTL colocalization models: syn69670630
AD fine-mapping models (AD Knowledge Portal): syn69670625
Top unified loci summary: syn69865824
Integrated AD Gene-Level Summary
AD risk genes prioritized by xQTL + GVC: syn70095142
AD risk genes prioritized by xQTL + TWAS + GVC: syn70095143
Bellenguez 2026 update (noproxy, main, nobiobank)
The 2026 files are fine-mapped from the summary statistics of the consensus meta-analysis of Alzheimer’s disease and related dementias (ADRD) by the EADB, PGC-ALZ and IGAP consortia: Bellenguez et al. 2026, Nature Genetics 58:1214–1225 (doi:10.1038/s41588-026-02583-1; preprint medRxiv 2025.10.20.25338060). The study reported 91 ADRD risk loci, 16 of them new. The fine-mapping for this release was run by Haochen and Yining.
Each analysis has a top-loci table (AD_Bellenguez_<variant>_2026.gwas.top_loci.bed.gz) and per-region SuSiE RSS fine-mapping objects (AD_Bellenguez_<variant>_2026.*.gwas_finemap.rds), staged on the AD Knowledge Portal alongside the 2022 release.
| Variant | Analysis in Bellenguez et al. 2026 |
|---|---|
main | Primary meta-analysis of European-ancestry samples from IGAP, EADB, PGC-ALZ, UK Biobank and FinnGen: 72,721 AD cases, 55,960 proxy ADRD cases, 614,267 controls and 235,566 proxy controls from 52 studies |
noproxy | The same meta-analysis without proxy ADRD cases and controls (people whose parent or sibling had dementia) |
nobiobank | The same meta-analysis without the large biobank samples, so mainly clinically diagnosed AD cases |
The paper does not list case and control numbers for the noproxy and nobiobank analyses in its main text; they are in its supplementary tables. The unified AD loci xQTL summary (unified_AD_loci_xQTL_summary_20261002.xlsx) integrates the 2026 loci with xQTL colocalization results.