Correspondence:
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Correspondence to: Lan Tan, MD, PhD, Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, No. 5 Donghai Middle Road, Qingdao 266071, China. Tel./Fax: +86 532 8890 5659; E-mail: [email protected] and Jin-Tai Yu, MD, PhD, Department of Neurology, University of California San Francisco, 675 Nelson Rising Lane, Suite 190, Box 1207, San Francisco, CA 94158, USA. E-mail: [email protected].
Note: [1] These authors contributed equally to this work.
Abstract: Background: Both Alzheimer’s disease (AD) and frontotemporal dementia (FTD) are a class of neurodegenerative diseases. Strong similarities in cerebrospinal fluid biomarker, imaging markers, and disease progression profiles suggest that some or most of the pathophysiology is shared between AD and FTD. A recent large genome-wide association study reported several single nucleotide polymorphisms (SNPs) at the RAB38, RAB38/CTSC, HLA-DRA/HLA-DRB5, and BTNL2 in association with FTD. Objective: To explore whether these SNPs are associated with AD risk. Methods: We conducted a case-control study to investigate the association of FTD-associated loci in 2338 Han Chinese subjects. Results: We observed significant differences in genotype distributions of rs302668 (pc = 0.025), rs9268877 (pc = 0.025), rs9268856 (p < 0.001), and rs1980493 (pc = 0.045) between cases and controls. The SNPs rs16913634 for RAB38/CTSC was unrelated to LOAD risk (p = 0.088). Conclusion: The SNPs rs302668 in RAB38, rs9268877 and rs9268856 polymorphism in HLA-DRA/HLA-DRB5, and rs1980493 polymorphism in BTNL2 might play a role in the susceptibility to late-onset AD in the Han Chinese population.
Keywords: Alzheimer’s disease, association study, frontotemporal dementia, polymorphism
