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Vol. 8, No. 4, 2011
Issue release date: May 2011
Neurodegenerative Dis 2011;8:216–220

rs5848 Variant of Progranulin Gene Is a Risk of Alzheimer’s Disease in the Taiwanese Population

Lee M.-J. · Chen T.-F. · Cheng T.-W. · Chiu M.-J.
aDepartment of Neurology, National Taiwan University Hospital, College of Medicine, and Departments of bPsychology and cNeurobiology and Cognitive Science Center, National Taiwan University, Taipei, Taiwan, ROC

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Progranulin is the precursor of granulins, and its downregulation may lead to neurodegeneration. The single-nucleotide polymorphism rs5848 increases the risk of Alzheimer’s disease (AD). We explored the association between alleles of rs5848 and the risk of AD in the Taiwanese population. The frequency of the homozygous TT genotype (16.4 vs. 10.0%) increased in AD subjects by an odds ratio (OR) of 1.87 (p = 0.03) corrected for APOE ε4, age and gender. Interaction between age and homozygous TT genotype accentuated the risk of AD (OR 4.44, p < 0.001). The homozygous TT genotype of rs5848 may play a role in the genetic risk of AD development, especially in the elderly.

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