Alzheimer's disease: rare variants with large effect sizes.
Saint Louis, United States. In Curr Opin Genet Dev, Aug 2015
Recent advances in sequencing technology and novel genotyping arrays (focused on low-frequency and coding variants) have made it possible to identify novel coding variants with large effect sizes and also novel genes (TREM2, PLD3, UNC5C, and AKAP9) associated with Alzheimer's disease (AD) risk.
PLD3 in Alzheimer's disease.
Qingdao, China. In Mol Neurobiol, Apr 2015
Rare coding variants in the phospholipase D3 (PLD3) gene, also known as HU-K4, have recently been identified to increase the risk for late-onset Alzheimer's disease (LOAD) by the whole exome sequencing (WES) in 14 large LOAD families and follow-up analyses of the candidate variants in several large independent LOAD case-control data series.
PLD3 is accumulated on neuritic plaques in Alzheimer's disease brains.
Tokyo, Japan. In Alzheimers Res Ther, 2013
INTRODUCTION: Recently, a whole-exome sequencing (WES) study showed that a rare variant rs145999145 composed of p.Val232Met located in exon 7 of the phospholipase D3 (PLD3) gene confers a doubled risk for late-onset Alzheimer's disease (AD).
Genetics of Alzheimer's disease.
Boston, United States. In Adv Genet, 2013
This effort has identified two novel genes, TREM2 and PLD3, and shown a role for APP in LOAD.