Large New Study (Over 35,000 Individuals with Late-Onset AD, Over 94,000 Total) Identifies Five Additional Genes That Put People at Greater Risk of Alzheimer’s Disease—Dr. Francis Collins Comments in NIH Director’s Blog

Predicting whether someone will get Alzheimer’s disease (AD) late in life, and how to use that information for prevention, has been an intense focus of biomedical research. The goal of this work is to learn, not only about the genes involved in AD, but how they work together, and with other complex biological, environmental, and lifestyle factors to drive this devastating neurological disease. It’s good news to be able to report that an international team of researchers, partly funded by NIH, has made more progress in explaining the genetic component of AD. Their analysis, involving data from more than 35,000 individuals with late-onset AD, has identified variants in five genes that put people at greater risk of AD. It also points to molecular pathways involved in AD as possible avenues for prevention, and offers further confirmation of 20 other genes that had been implicated previously in AD. The results of this largest-ever genomic study of AD suggest key roles for genes involved in the processing of beta-amyloid peptides, which form plaques in the brain recognized as an important early indicator of AD. The results also offer the first evidence for a genetic link to proteins that bind tau, the protein responsible for tell-tale tangles in the AD brain that track closely with a person’s cognitive decline. The Nature Genetics article summarizing this work was published online on February 28, 2019, and is titled “Genetic Meta-Analysis of Diagnosed Alzheimer’s Disease Identifies New Risk Loci and Implicates Aβ, Tau, Immunity, and Lipid Processing.”
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