About this Journal Submit a Manuscript Table of Contents
Journal of Probability and Statistics
Volume 2012 (2012), Article ID 375935, 19 pages
Research Article

Predicting Disease Onset from Mutation Status Using Proband and Relative Data with Applications to Huntington's Disease

1Department of Biostatistics, Mailman School of Public Health, Columbia University, 722 West 168th Street, New York, NY 10032, USA
2Department of Statistics, Texas A&M University, College Station, TX 77843, USA
3Departments of Neurology and Psychiatry and Sergievsky Center and the Taub Institute, Columbia University Medical Center, New York, NY 10032, USA
4Department of Psychiatry and Biostatistics (Secondary), University of Iowa, Iowa City, IA 52242, USA

Received 15 December 2011; Accepted 22 February 2012

Academic Editor: Yongzhao Shao

Copyright © 2012 Tianle Chen et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. C. A. Ross, “When more is less: pathogenesis of glutamine repeat neurodegenerative diseases,” Neuron, vol. 15, no. 3, pp. 493–496, 1995. View at Scopus
  2. C. A. Ross and S. J. Tabrizi, “Huntington's disease: from molecular pathogenesis to clinical treatment,” The Lancet Neurology, vol. 10, pp. 83–98, 2010.
  3. T. Foroud, J. Gray, J. Ivashina, and P. M. Conneally, “Differences in duration of Huntington's disease based on age at onset,” Journal of Neurology Neurosurgery and Psychiatry, vol. 66, no. 1, pp. 52–56, 1999. View at Scopus
  4. K. Kieburtz and Huntington Study Group, “The unified Huntington's disease rating scale: reliability and consistency,” Movement Disorder, vol. 11, pp. 136–142, 1996.
  5. E. R. Dorsey, C. A. Beck, M. Adams, et al., “TREND-HD communicating clinical trial results to research participants,” Archives of Neurology, vol. 65, no. 12, pp. 1590–1595, 2008.
  6. E. R. Dorsey and Huntington Study Group COHORT Investigators, “Characterization of a large group of individuals with Huntington disease and their relatives enrolled in the COHORT study,” PLoS ONE, vol. 7, no. 2, Article ID e29522, 2012.
  7. D. Falush, E. W. Almqvist, R. R. Brinkmann, Y. Iwasa, and M. R. Hayden, “Measurement of mutational flow implies both a high new-mutation rate for huntington disease and substantial under ascertainment of late-onset cases,” The American Journal of Human Genetics, vol. 68, pp. 373–385, 2000.
  8. Y. Wang, L. N. Clark, E. D. Louis et al., “Risk of Parkinson disease in carriers of Parkin mutations: estimation using the kin-cohort method,” Archives of Neurology, vol. 65, no. 4, pp. 467–474, 2008. View at Publisher · View at Google Scholar · View at Scopus
  9. D. C. Rubinsztein, J. Leggo, R. Coles et al., “Phenotypic characterization of individuals with 30–40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36–39 repeats,” American Journal of Human Genetics, vol. 59, no. 1, pp. 16–22, 1996. View at Scopus
  10. D. R. Langbehn, R. R. Brinkman, D. Falush, J. S. Paulsen, and M. R. Hayden, “A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length,” Clinical Genetics, vol. 65, no. 4, pp. 267–277, 2004. View at Publisher · View at Google Scholar · View at Scopus
  11. O. C. Stine, N. Pleasant, M. L. Franz, M. H. Abbott, S. E. Folstein, and C. A. Ross, “Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15,” Human Molecular Genetics, vol. 2, no. 10, pp. 1547–1549, 1993.
  12. C. Gutierrez and A. MacDonald, Huntington Disease and Insurance. I: A Model of Huntington Disease, Genetics and Insurance Research Centre (GIRC), Edinburgh, UK, 2002.
  13. C. Gutierrez and A. MacDonald, “Huntington disease, critical illness insurance and life insurance,” Scandinavian Actuarial Journal, vol. 4, pp. 279–313, 2004.
  14. D. R. Langbehn, M. R. Hayden, and J. S. Paulsen, “CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches,” American Journal of Medical Genetics, vol. 153, no. 2, pp. 397–408, 2010.
  15. T. Louis, “Finding the observed information matrix when using the EM algorithm,” Journal of the Royal Statistical Society, Series B, vol. 44, pp. 226–233, 1982.
  16. N. M. Laird and J. H. Ware, “Random-effects models for longitudinal data,” Biometrics, vol. 38, no. 4, pp. 963–974, 1982. View at Scopus
  17. K. Marder, G. Levy, E. D. Louis et al., “Accuracy of family history data on Parkinson's disease,” Neurology, vol. 61, no. 1, pp. 18–23, 2003. View at Scopus
  18. J. Kang, J. Cho, and H. Zhao, “Practical issues in building risk-predicting models for complex diseases,” Journal of Biopharmaceutical Statistics, vol. 20, no. 2, pp. 415–440, 2010. View at Publisher · View at Google Scholar · View at Scopus
  19. B. Kremer, E. Almqvist, J. Theilmann et al., “Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes,” American Journal of Human Genetics, vol. 57, no. 2, pp. 343–350, 1995. View at Scopus
  20. C. T. McMurray, “Mechanisms of trinucleotide repeat instability during human development,” Nature Reviews Genetics, vol. 11, no. 11, pp. 786–799, 2010. View at Publisher · View at Google Scholar · View at Scopus
  21. R. R. Brinkman, M. M. Mezei, J. Theilmann, E. Almqvist, and M. R. Hayden, “The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size,” The American Journal of Human Genetics, vol. 60, no. 5, pp. 1202–1210, 1997.