BU Researchers Contribute to Largest Consensus Genetic Study of Alzheimer’s Disease
BU Biomedical Genetics researchers Dr. Lindsay A. Farrer, along with Congcong Zhu, John J. Farrell, Donghe Li, Richard M. Sherva, and others contributed to a major international consensus meta-analysis published in Nature Genetics. The study looked at data from three leading Alzheimer’s genetics consortia: the European Alzheimer & Dementia Biobank (EADB), the European Alzheimer’s Disease Initiative (EADI), and the Alzheimer Disease Genetics Consortium (which Dr. Farrer co-leads), along with CHARGE, FinnGen, GERAD, GR@ACE/DEGESCO, and PGC-ALZ consortia.
Analyzing genome-wide association data from more than 128,000 cases or proxy cases of Alzheimer’s disease and related dementias and nearly 850,000 controls of European ancestry, the consensus effort identified 91 genetic loci associated with disease risk, 16 of which were newly discovered and 56 of which were specifically linked to clinically diagnosed Alzheimer’s cases. The team also flagged an additional 18 loci that need further validation in future studies.
Beyond identifying new risk regions, the researchers built a polygenic risk score from the identified loci (excluding the well-known APOE gene) and found it was closely tied to Alzheimer’s-specific brain pathology rather than other forms of dementia. Individuals in the top tenth of the score had roughly twice the risk of severe tau tangle pathology and amyloid plaque buildup at death compared to those with average scores, reinforcing the biological relevance of these genetic findings to the disease process itself. This unprecedented, harmonized analysis across multiple consortia and large national biobanks represents one of the most comprehensive efforts to date to map the genetic architecture of Alzheimer’s disease.
Read the full study in Nature Genetics: https://doi.org/10.1038/s41588-026-02583-1