New Genetic Variants Identified in Alzheimer Disease

Researchers use whole exome sequencing to identify a rare polymorphism on the PLD3 gene that increases risk for late-onset Alzheimer disease.

Genome-wide association studies of late-onset Alzheimer disease (LOAD) have found genetic loci that confer only small risks and are of unknown functional significance. In contrast, genotyping of families with high LOAD rates has identified genetic variants (e.g., APP, PSEN1, PSEN2) that confer high risk and are involved in amyloid pathways.

To seek other variants with low frequency but high risk, researchers performed whole exome sequencing on at least two affected members and one nonaffected member in 14 LOAD families (from a National Institute of Aging database) in whom the APOE4 allele did not segregate with LOAD.

A rare polymorphism in PLD3 (a substitution of valine by methionine at codon 232) segregated with LOAD in two independent famil…

Reviewing Author

Barbara Geller, MD

Disclosures

Nothing to disclose

Barbara Geller, MD

Disclosures

Nothing to disclose

New Genetic Variants Identified in Alzheimer Disease

Topics

Reviewing Author