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Behavior, Cognition and Neuroscience
Volume 23, 2017 - Issue 1
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Articles

Identification of a rare coding variant in TREM2 in a Chinese individual with Alzheimer’s disease

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Pages 65-69 | Received 22 Jul 2016, Accepted 06 Feb 2017, Published online: 05 Apr 2017

References

  • Albert, M., DeKosky, S. T., Dickson, D., Dubois, B., Feldman, H. H., Fox, N., … Phelps, C. (2011). The diagnosis of mild cognitive impairment due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease. Alzheimer’s and Dementia, 7, 270–279. doi:10.1016/j.jalz.2011.03.008
  • Borroni, B., Ferrari, F., Galimberti, D., Nacmias, B., Barone, C., Bagnoli, S., … Padovani, A. (2014). Heterozygous TREM2 mutations in frontotemporal dementia. Neurobiology of Aging, 35, 4. doi:10.1016/j.neurobiolaging.2013.09.017
  • Carson, A. R., Smith, E. N., Matsui, H., Brækkan, S. K., Jepsen, K., Hansen, J.-B., & Frazer, K. A. (2014). Effective filtering strategies to improve data quality from population-based whole exome sequencing studies. BMC Bioinformatics, 15, 125. doi:10.1186/1471-2105-15-125
  • Chao, S. Z., Lai, N. B., Tse, M. M., Ho, R. J., Kong, J. P., Matthews, B. R., … Rosen, H. J. (2011). Recruitment of Chinese American elders into dementia research: The UCSF ADRC experience. The Gerontologist, 51, S125–33. doi:10.1093/geront/gnr033
  • Chao, S. Z., Matthews, B. R., Yokoyama, J. S., Lai, N. B., Ong, H., Tse, M., … Rosen, H. J. (2014). Depressive symptoms in Chinese-American subjects with cognitive impairment. American Journal of Geriatric Psychiatry, 22, 642–652. doi:10.1016/j.jagp.2012.10.029
  • Colonna, M., & Wang, Y. (2016). TREM2 variants: New keys to decipher Alzheimer disease pathogenesis. Nature Reviews. Neuroscience, 17, 201–207. doi:10.1038/nrn.2016.7
  • Folstein, M. F., Folstein, S. E., & McHugh, P. R. (1975). “Mini-mental state”. A practical method for grading the cognitive state of patients for the clinician. Journal of Psychiatric Research, 12, 189–198. doi:10.1016/0022-3956(75)90026-6
  • Guerreiro, R., Bilgic, B., Guven, G., Brás, J., Rohrer, J., Lohmann, E., & Emre, M. (2013). A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiology of Aging, 34, 2890.e1–2890.e5. doi:10.1016/j.neurobiolaging.2013.06.005
  • Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., … Hardy, J. (2013). TREM2 variants in Alzheimer’s disease. The New England Journal of Medicine, 368, 117–127. doi:10.1056/NEJMoa1211851
  • Huang, M., Wang, D., Xu, Z., Xu, Y., Xu, X., Ma, Y., & Xia, Z. (2015). Lack of genetic association between TREM2 and Alzheimer’s disease in East Asian population: A systematic review and meta-analysis. American Journal of Alzheimer’s Disease and Other Dementias, 30, 541–546. doi:10.1177/1533317515577128
  • Jiang, T., Tan, L., Chen, Q., Tan, M. S., Zhou, J. S., Zhu, X. C., & Yu, J. T. (2016). A rare coding variant in TREM2 increases risk for Alzheimer’s disease in Han Chinese. Neurobiology of Aging, 42, 217.e1–217.e3. doi:10.1016/j.neurobiolaging.2016.02.023
  • Jin, S. C. (2014). Identification of Functional Variants in Alzheimer’s Disease-Associated Genes. St. Louis, MO: Washington University.
  • Jin, S. C., Benitez, B. A., Karch, C. M., Cooper, B., Skorupa, T., Carrell, D., … Cruchaga, C. (2014). Coding variants in TREM2 increase risk for Alzheimer’s disease. Human Molecular Genetics, 23, 5838–5846. doi:10.1093/hmg/ddu277
  • Jin, S. C., Carrasquillo, M. M., Benitez, B. A., Skorupa, T., Carrell, D., Patel, D., … Ertekin-Taner, N. (2015). TREM2 is associated with increased risk for Alzheimer’s disease in African Americans. Molecular Neurodegeneration, 10, 19. doi:10.1186/s13024-015-0016-9
  • Jonsson, T., Stefansson, H., Steinberg, S., Jonsdottir, I., Jonsson, P. V., Snaedal, J., … Stefansson, K. (2013). Variant of TREM2 associated with the risk of Alzheimer’s disease. The New England Journal of Medicine, 368, 107–116. doi:10.1056/NEJMoa1211103
  • Kiialainen, A., Hovanes, K., Paloneva, J., Kopra, O., & Peltonen, L. (2005). Dap12 and Trem2, molecules involved in innate immunity and neurodegeneration, are co-expressed in the CNS. Neurobiology of Disease, 18, 314–322. doi:10.1016/j.nbd.2004.09.007
  • Kleinberger, G., Yamanishi, Y., Suárez-Calvet, M., Czirr, E., Lohmann, E., Cuyvers, E., … Haass, C. (2014). TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis. Science Translational Medicine, 6, 243ra86. doi:10.1126/scitranslmed.3009093
  • Lek, M., Karczewski, K., Minikel, E., Samocha, K., Banks, E., Fennell, T., & MacArthur, D. (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature, 536 (7616),285–291. JOUR. Retrieved from doi:http://dx.doi.org/10.1038/nature19057
  • Ma, J., Zhou, Y., Xu, J., Liu, X., Wang, Y., Deng, Y., … Chen, S. (2014). Association study of TREM2 polymorphism rs75932628 with late-onset Alzheimer’s disease in Chinese Han population. Neurological Research, 36, 894–896. doi:10.1179/1743132814Y.0000000376
  • McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., … DePristo, M. A. (2010). The genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research, 20, 1297–1303. doi:10.1101/gr.107524.110
  • Mckhann, G., Knopman, D. S., Chertkow, H., Hyman, B. T., Jack, C. R., Kawas, C., … Phelps, C. (2011). The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease. Alzheimer’s and Dementia, 7, 263–269. doi:10.1016/j.jalz.2011.03.005
  • Miyashita, A., Wen, Y., Kitamura, N., Matsubara, E., Kawarabayashi, T., Shoji, M., … Kuwano, R. (2014). Lack of Genetic Association between TREM2 and late-onset Alzheimer’s disease in a Japanese population. Journal of Alzheimer’s Disease: JAD, 41, 1031–1038. doi:10.3233/JAD-140225
  • Painter, M. M., Atagi, Y., Liu, C.-C., Rademakers, R., Xu, H., Fryer, J. D., & Bu, G. (2015). TREM2 in CNS homeostasis and neurodegenerative disease. Molecular Neurodegeneration, 10, 43. doi:10.1186/s13024-015-0040-9
  • Park, J. S., Ji, I. J., An, H. J., Kang, M. J., Kang, S. W., Kim, D. H., & Yoon, S. Y. (2015). Disease-associated mutations of TREM2 alter the processing of N-linked oligosaccharides in the Golgi apparatus. Traffic, 16, 510–518. doi:10.1111/tra.12264
  • Possin, K. L., Laluz, V. R., Alcantar, O. Z., Miller, B. L., & Kramer, J. H. (2011). Distinct neuroanatomical substrates and cognitive mechanisms of figure copy performance in Alzheimer’s disease and behavioral variant frontotemporal dementia. Neuropsychologia, 49, 43–48. doi:10.1016/j.neuropsychologia.2010.10.026
  • Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A., Bender, D., … Sham, P. C. (2007). PLINK: A tool set for whole-genome association and population-based linkage analyses. American Journal of Human Genetics, 81, 559–575. doi:10.1086/519795
  • Rankin, K. P., Kramer, J., & Miller, B. L. (2005). Patterns of cognitive and emotional empathy in frontotemporal lobar degeneration. Cognitive and Behavioral Neurology, 18, 28–36. doi:10.1097/01.wnn.0000152225.05377.ab
  • Wang, Y., Cella, M., Mallinson, K., Ulrich, J. D., Young, K. L., Robinette, M. L., … Colonna, M. (2015). TREM2 lipid sensing sustains the microglial response in an Alzheimer’s disease model. Cell, 160, 1061–1071. doi:10.1016/j.cell.2015.01.049
  • Yokoyama, J. S., Lee, A. K. L., Takada, L. T., Busovaca, E., Bonham, L. W., Chao, S. Z., … Rosen, H. J. (2015). Apolipoprotein ε4 is associated with lower brain volume in cognitively normal Chinese but not white older adults. PLoS One, 10, e0118338. doi:10.1371/journal.pone.0118338
  • Yu, J. T., Jiang, T., Wang, Y. L., Wang, H. F., Zhang, W., Hu, N., … Tan, L. (2014). Triggering receptor expressed on myeloid cells 2 variant is rare in late-onset Alzheimer’s disease in Han Chinese individuals. Neurobiology of Aging, 35, 937.e1–937.e3. doi:10.1016/j.neurobiolaging.2013.10.075
  • Yuan, P., Condello, C., Keene, C. D., Wang, Y., Bird, T. D., Paul, S. M., … Grutzendler, J. (2016). TREM2 haplodeficiency in mice and humans impairs the microglia barrier function leading to decreased amyloid compaction and severe axonal dystrophy. Neuron, 90, 724–739. doi:10.1016/j.neuron.2016.05.003
  • Zhang, Y., Chen, K., Sloan, S. A., Bennett, M. L., Scholze, A. R., O’Keeffe, S., … Wu, J. Q. (2014). An RNA-sequencing transcriptome and splicing database of glia, neurons, and vascular cells of the cerebral cortex. Journal of Neuroscience, 34, 11929–11947. doi:10.1523/JNEUROSCI.1860-14.2014

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