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

Article type: Research Article

Authors: Wang, Chong^a | Tan, Lan^{a; b; c; *} | Wang, Hui-Fu^b | Yu, Wan-Jiang^c | Liu, Ying^d | Jiang, Teng^b | Tan, Meng-Shan^a | Hao, Xiao-Ke^e | Zhang, Dao-Qiang^e | Yu, Jin-Tai^{a; b; f; *} | Disease Neuroimaging Initiative Alzheimer’s

Affiliations: [a] Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, China | [b] Department of Neurology, Qingdao Municipal Hospital, Nanjing Medical University, Qingdao, China | [c] Department of Radiology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, China | [d] Department of Neurology, Qingdao Municipal Hospital, Dalian Medical University, China | [e] Department of Computer Science and Engineering, Nanjing University of Aeronautics and Astronautics, Nanjing, China | [f] Memory and Aging Center, Department of Neurology, University of California, San Francisco, CA, USA

Correspondence: [*] Correspondence to: Lan Tan, MD, PhD, Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, No.5 Donghai Middle Road, Qingdao, Shandong Province 266071, China. [email protected]

Correspondence: [*] Correspondence to: Jin-Tai Yu, Deparment of Neurology, University of California, San Francisco, 675 Nelson Rising Lane, Suite 190, Box 1207, San Francisco, CA 94158, USA. [email protected] or [email protected]

Note: [1] Data used in preparation of this article were obtained fromthe Alzheimer’s Disease Neuroimaging Initiative (ADNI) database (http://adni.loni.usc.edu). As such, the investigators within the ADNIcontributed to the design and implementation of ADNI and/orprovided data but did not participate in analysis or writing of this report. A complete listing of ADNI investigators can be found at: http://adni.loni.usc.edu/wp-content/uploads/how_to_apply/ADNI_Acknowledgement_List.pdf.

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, amyloid-β , association, PLD3

DOI: 10.3233/JAD-150110

Journal: Journal of Alzheimer's Disease, vol. 46, no. 2, pp. 491-495, 2015