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Common Variants in PLD3 and Correlation to Amyloid-Related Phenotypes in Alzheimer's Disease
Journal article   Peer reviewed

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

Chong Wang, Lan Tan, Hui-Fu Wang, Wan-Jiang Yu, Ying Liu, Teng Jiang, Meng-Shan Tan, Xiao-Ke Hao, Dao-Qiang Zhang, Jin-Tai Yu, …
Journal of Alzheimer's disease, Vol.46(2), pp.491-495
2015
DOI: 10.3233/JAD-150110
PMCID: PMC6312181
PMID: 26402410
url
https://www.ncbi.nlm.nih.gov/pmc/articles/6312181View
Open Access

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

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