Association of Frontotemporal Dementia GWAS Loci with Late-Onset Alzheimer%26apos;s Disease in a Northern Han Chinese Population

作者：Tan Chen Chen; Wan Yu; Tan Meng Shan; Zhang Wei; Wang Zi Xuan; Sun Fu Rong; Miao Dan; Tan Lan; Yu Jin Tai

来源：Journal of Alzheimer's Disease, 2016, 52(1): 43-50.

DOI：10.3233/JAD-151073

• Alzheimer's disease
• association study
• frontotemporal dementia
• polymorphism

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 (p(c) = 0.025), rs9268877 (p(c) = 0.025), rs9268856 (p < 0.001), and rs1980493 (p(c) = 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.

• 出版日期2016
• 单位青岛市市立医院; 青岛大学