FunGen-AD-funded research identifies rare genetic variation in FN1 that protects against APOEε4 in Alzheimer’s disease

Researchers at Columbia University Vagelos College of Physicians and Surgeons, including FunGen-AD researchers Badri Vardarajan and Richard Mayeux, have identified a previously unknown genetic variant that can reduce an individual’s odds of developing Alzheimer’s disease (AD).

The ε4 form of the APOE gene has been shown to significantly increase AD risk. In this study, researchers identified potentially protective variants found exclusively among unaffected APOE ε4 carriers and prioritized one such variant in the fibronectin 1 (FN1) gene for further study. After combining their results with those generated by researchers at Stanford University and the University of Washington using additional large datasets, the team determined that among individuals carrying two copies of APOEε4, the FN1 gene variant reduced the risk of AD by 71%. These findings offer clues to potential therapeutic interventions to mitigate AD risk.

This research was partially supported by FunGen-AD grants R01AG067501 and RF1AG066107 is published in Acta Neuropathologica here. You can read more about the research findings at the following links: