Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News & Views
  • Published:

Alzheimer disease

The quest for Alzheimer disease genes—focus on CSF tau

Alzheimer disease (AD)-associated loci identified by genome-wide association studies (GWAS) only partly explain the genetic risk for this common neurodegenerative dementia. A recent GWAS of an alternative phenotype—cerebrospinal fluid tau levels—has uncovered new genetic variants that might further account for risk of AD and provide novel pathophysiological insights.

This is a preview of subscription content, access via your institution

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Prices may be subject to local taxes which are calculated during checkout

References

  1. Hindorff, L. A. et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl Acad. Sci. USA 106, 9362–9367 (2009).

    Article  CAS  Google Scholar 

  2. Ertekin-Taner, N., De Jager, P. L., Yu, L. & Bennett, D. A. Alternative approaches in gene discovery and characterization in Alzheimer's disease. Curr. Genet. Med. Rep. 1, 39–51 (2013).

    Article  Google Scholar 

  3. Cruchaga, C. et al. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron 78, 256–268 (2013).

    Article  CAS  Google Scholar 

  4. Jack, C. R. Jr et al. Tracking pathophysiological processes in Alzheimer's disease: an updated hypothetical model of dynamic biomarkers. Lancet Neurol. 12, 207–216 (2013).

    Article  CAS  Google Scholar 

  5. Naj, A. C. et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat. Genet. 43, 436–441 (2011).

    Article  CAS  Google Scholar 

  6. Keenan, B. T. et al. A coding variant in CR1 interacts with APOE-ε4 to influence cognitive decline. Hum. Mol. Genet. 21, 2377–2388 (2012).

    Article  CAS  Google Scholar 

  7. Guerreiro, R. et al. TREM2 variants in Alzheimer's disease. New Engl. J. Med. 368, 117–127 (2013).

    Article  CAS  Google Scholar 

  8. Kauwe, J. S. et al. Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition. Proc. Natl Acad. Sci. USA 105, 8050–8054 (2008).

    Article  CAS  Google Scholar 

  9. Allen, M. et al. Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology 79, 221–228 (2012).

    Article  CAS  Google Scholar 

  10. Zou, F. et al. Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS Genet. 8, e1002707 (2012).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

Work in the Ertekin-Taner laboratory has been funded by the NIH, National Institute on Aging (R01AG032990, P50AG016574), Cure PSP Society, GHR Foundation, Siragusa Foundation and Mayo Clinic Center for Individualized Medicine.

Author information

Authors and Affiliations

Authors

Ethics declarations

Competing interests

The author declares no competing financial interests.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ertekin-Taner, N. The quest for Alzheimer disease genes—focus on CSF tau. Nat Rev Neurol 9, 368–370 (2013). https://doi.org/10.1038/nrneurol.2013.117

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/nrneurol.2013.117

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing