Analysis of sequence data in high-risk pedigrees identifies rare Alzheimer’s disease risk genes

Takeaway

  • Analysis of exomes from Alzheimer's disease-affected cousin pairs identifies rare candidate variants for this type of dementia.

Why this matters

  • Analysis of sequence data in high-risk pedigrees is needed to enable the detection of rare predisposition variants.

  • This important study supports rare variant prioritization through pedigree-based analyses and provides further evidence for the role of ABCA7 and TTR in Alzheimer's disease risk.

  • These analyses also identify other rare variants which may contribute to Alzheimer's disease risk; identifying individuals at increased risk would allow for earlier and more effective interventions.