rs5848 Variant of Progranulin Gene Is a Risk of Alzheimer’s Disease in the Taiwanese PopulationLee M.-J.a, c · Chen T.-F.a · Cheng T.-W.a · Chiu M.-J.a–c
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.
© 2011 S. Karger AG, Basel
- Baker M, Mackenzie IR, Pickering-Brown SM, et al: Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006;442:916–919.
- Cruts M, Gijselinck I, van der Zee J, et al: Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006;442:920–924.
- Rademakers R, Eriksen JL, Baker M, et al: Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Hum Mol Genet 2008;17:3631–3642.
- Simón-Sànchez J, Seelaar H, Bochdanvoits Z, Deeg DJH, van Swieten JC, Heutink P: Variation at GRN-3′UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population. PLoS ONE 2009;4:e7494.
- Fenoglio C, Galimberti D, Cortini F, et al: rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer’s disease. J Alzheimers Dis 2009;18:603–612.
- Brouwers N, Sleegers K, Engelborghs S, et al: Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease. Neurology 2008;71:656–664.
Viswanathan J, Mäkinen P, Helisalmi S, et al: An association study between granulin gene polymorphisms and Alzheimer’s disease in Finnish population. Am J Med Genet Part A 2008;150B:747–750.
- Rodriguez S, Gaunt TR, Day INM: Hardy-Weinberg equilibrium testing of biological ascertainment for mendelian randomization studies. Am J Epidemol 2009;169:505–514.
- Gordon D, Finch SJ, Nothnagel M, Ott J: Power and sample size calculations for case-control genetic association tests when errors present: application to single nucleotide polymorphisms. Hum Hered 2002;54:22–33.
- Barrett JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263–265.
- Pereson S, Wils H, Kleinberger G, et al: Progranulin expression correlates with dense-core amyloid plaque burden in Alzheimer’s disease mouse models. J Pathol 2009;219:173–181.
- Dickson DW, Baker M, Rademakers R: Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly. Neurodegener Dis 2010;7:170–174.
- Kovac IP, Dubé MP: Different models and single-nucleotide polymorphisms signal the simulated weak gene-gene interaction for a quantitative trait using haplotype-based and mixed models testing. BMC Proc 2009;3(suppl 7):S77.
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