Common Variants in PLD3 and Correlation to Amyloid-Related Phenotypes in Alzheimer's Disease

J Alzheimers Dis. 2015;46(2):491-5. doi: 10.3233/JAD-150110.

Abstract

The phospholipase D3 (PLD3) gene has shown association with Alzheimer's disease (AD). However, the role of PLD3 common variants in amyloid-β (Aβ) pathology remains unclear. We examined the association of thirteen common single nucleotide polymorphisms (SNPs) with cerebrospinal fluid (CSF) Aβ(1- 42) levels and florbetapir retention on florbetapir 18F amyloid positron emission tomography (AV45-PET) in a large population. We found that one SNP (rs11667768) was significantly associated with CSF Aβ(1- 42) levels in the normal cognition group. We did not observe an association of any SNP with florbetapir retention. Our study predicted the potential role of PLD3 variants in Aβ pathology.

Keywords: Alzheimer’s disease; PLD3; amyloid-β; association.

Publication types

  • Multicenter Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / genetics*
  • Amyloid beta-Peptides / cerebrospinal fluid*
  • Female
  • Humans
  • Male
  • Peptide Fragments / cerebrospinal fluid*
  • Phenotype
  • Phospholipase D / genetics*
  • Polymorphism, Single Nucleotide*
  • Positron-Emission Tomography

Substances

  • Amyloid beta-Peptides
  • Peptide Fragments
  • amyloid beta-protein (1-42)
  • PLD3 protein, human
  • Phospholipase D