publication . Article . Other literature type . 2014

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

Michelle Lupton;
  • Published: 01 Jan 2014
  • Country: United Kingdom
Abstract
Genome-wide association studies (GWAS) have identified several risk variants for late-onset Alzheimer's disease (LOAD). These common variants have replicable but small effects on LOAD risk and generally do not have obvious functional effects. Low-frequency coding variants, not detected by GWAS, are predicted to include functional variants with larger effects on risk. To identify low-frequency coding variants with large effects on LOAD risk, we carried out whole-exome sequencing (WES) in 14 large LOAD families and follow-up analyses of the candidate variants in several large LOAD case-control data sets. A rare variant in PLD3 (phospholipase D3; Val232Met) segrega...
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