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, Part B: Neuropsychiatric Genetics

Volumn 153, Issue 2, 2010, Pages 397-408

  Langbehn, Douglas R ^a,b,d   Hayden, Michael R ^c   Paulsen, Jane S ^a,d   Johnson, Hans ^d   Aylward, Elizabeth ^e   Biglan, Kevin ^f   Kieburtz, Karl ^f   Oakes, David ^f   Shoulson, Ira ^f   Guttman, Mark ^g   Landwehrmeyer, Bernhard G ^h   Nance, Martha ⁱ   Ross, Christopher ^j   Stout, Julie ^k,l  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^e UNIVERSITY OF WASHINGTON   (United States)

^f UNIVERSITY OF ROCHESTER   (United States)

^g UNIVERSITY OF TORONTO   (Canada)

^h UNIVERSITY OF ULM   (Germany)

ⁱ HENNEPIN COUNTY MEDICAL CENTER   (United States)

^j JOHNS HOPKINS UNIVERSITY   (United States)

^k INDIANA UNIVERSITY   (United States)

^l MONASH UNIVERSITY   (Australia)

more..

Author keywords

Huntington disease; Polyglutamine expansion; Prognosis; Survival analysis

Indexed keywords

CAGA PROTEIN;

DIAGNOSTIC PROCEDURE; GENETIC COUNSELING; HUMAN; HUNTINGTON CHOREA; METHODOLOGY; PREDICTION; PRIORITY JOURNAL; REVIEW; RISK; SURVIVAL; VALIDATION STUDY;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; FEMALE; HUMANS; HUNTINGTON DISEASE; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; MODELS, STATISTICAL; MODELS, THEORETICAL; PEPTIDES; PROGNOSIS; PROSPECTIVE STUDIES; TRINUCLEOTIDE REPEATS;

EID: 77349122826     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30992     Document Type: Review

References (50)

1. Akaike H. 1973. Information theory and an extension of the maximum likelihood principle. In: Petrov BNFC, editor. Second International Symposium on Information theory. Budapest: Akademiai Kiado. pp 267-281.
2. Akaike H. 1992. Information theory and an extension of the maximum likelihood principle. In: Kotz S, Johnson NL, editors. Breakthroughs in statistics. New York: Springer-Verlag. pp 610-624.
3. Allison PD. 1995. Survival analysis using the SAS system: A practical guide. Cary, NC: SAS Institute. 292p.
4. Almqvist EW, Elterman DS, MacLeod PM, Hayden MR. 2001. High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin Genet 60(3):198-205.
5. Andresen JM, Gayan J, Cherny SS, Brocklebank D, Alkorta-Aranburu G, Addis EA, Cardon LR, Housman DE, Wexler NS. 2007a. Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. J Med Genet 44(1):44-50.
6. Andresen JM, Gayan J, Djousse L, Roberts S, Brocklebank D, Cherny SS, Cardon LR, Gusella JF, MacDonald ME, Myers RH, Housman DE, Wexler NS. 2007b. The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. Ann Hum Genet 71(Pt3): 293-295.
7. Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, Squitieri F, Lin B, Kalchman MA, et al. 1993. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet 4(4):398-403.
8. Aylward EH, Codori AM, Barta PE, Pearlson GD, Harris GJ, Brandt J. 1996. Basal ganglia volume and proximity to onset in presymptomatic Huntington disease. Arch Neurol 53(12):1293-1296.
9. Brinkman RR, Mezei MM, Theilmann J, Almqvist E, Hayden MR. 1997. The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet 60(5):1202-1210.
10. Burnham KP, Anderson DR. 1998. Model selection and inference, a practical information-Theoretical approach. New York: Springer. 353p.
11. Cha JH. 2007. Transcriptional signatures in Huntington's disease. Prog Neurobiol 83(4):228-248.
12. Chattopadhyay B, Ghosh S, Gangopadhyay PK, Das SK, Roy T, Sinha KK, Jha DK, Mukherjee SC, Chakraborty A, Singhal BS, Bhattacharya AK, Bhattacharyya NP. 2003. Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India. Neurosci Lett 345(2):93-96.
13. Clark V. 2004. SAS/STAT 9.1: User's guide. Cary, NC: SAS Pub. Cox DR, Oakes D. 1984. Analysis of survival data. London; New York: Chapman and Hall. viii, 201p.
14. Djousse L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, Ross C, Margolis R, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gomez-Tortosa E, Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky O, Paulsen J, Harrison M, Yang Q, Cupples LA, Gusella JF, MacDonald ME, Myers RH. 2003. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am J Med Genet Part A 119A(3):279-282.
15. Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontali M, Folstein S, Ross C, Franz M, Abbott M, et al. 1993. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 4(4):387-392.
16. Falush D, Almqvist EW, Brinkmann RR, Iwasa Y, Hayden MR. 2001. Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am J Hum Genet 68(2):373-385.
17. Gutierrez C, MacDonald A. 2002. Huntington's disease and insurance. I: A model of Huntington's disease. Edinburgh: Genetics and Insurance Research Centre (GIRC). 28p.
18. Gutierrez C, MacDonald A. 2004. Huntington's disease, critical illness insurance and life insurance. Scand Actuarial J 2004:279-311.
19. Harrell FE. 2001. Regression modeling strategies: With applications to linear models, logistic regression, and survival analysis. New York: Springer. xxii, 568p.
20. Huntington Study Group Investigators. 1996. Unified Huntington's Disease Rating Scale: Reliability and consistency. Mov Disord 11(2): 136-142.
21. Huntington's Disease Collaborative Research Group. 1993. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72(6):971-983.
22. Insightful Corporation. 2007. S-Plus 8 guide to statistics, Volume 2. Seattle, WA: Insightful Corporation.
23. Kalbfleisch JD, Prentice RL. 2002. The statistical analysis of failure time data. Hoboken, NJ: J. Wiley. xiii, 439p. Knight K. 2000. Mathematical statistics. Boca Raton: Chapman & Hall/ CRC Press. 481p.
24. Langbehn DR, Brinkman RR, Falush D, Paulsen JS, Hayden MR. 2004. A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet 65(4): 267-277.
25. Langbehn DR, Paulsen JS, Huntington Study Group. 2007. Predictors of diagnosis in Huntington disease. Neurology 68(20):1710-1717.
26. Lawless JF. 2003. Statistical models and methods for lifetime data. Hoboken, NJ: Wiley-Interscience. xx, 630p.
27. Li JL, Hayden MR, Almqvist EW, Brinkman RR, Durr A, Dode C, Morrison PJ, Suchowersky O, Ross CA, Margolis RL, Rosenblatt A, Gomez-Tortosa E, Cabrero DM, Novelletto A, Frontali M, Nance M, Trent RJ, McCusker E, Jones R, Paulsen JS, Harrison M, Zanko A, Abramson RK, Russ AL, Knowlton B, Djousse L, Mysore JS, Tariot S, Gusella MF, Wheeler VC, AtwoodLD, Cupples LA, Saint-HilaireM,ChaJH, HerschSM,Koroshetz WJ, Gusella JF, MacDonald ME, Myers RH. 2003. A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet 73(3):682-687.
28. Lucotte G, Turpin JC, Riess O, Epplen JT, Siedlaczk I, Loirat F, Hazout S. 1995. Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease. Hum Genet 95(2):231-232.
29. Maat-Kievit A, Losekoot M, Zwinderman K, Vegter-van der Vlis M, Belfroid R, Lopez F, Van Ommen GJ, Breuning M, Roos R. 2002. Predictability of age at onset in Huntington disease in the Dutch population. Medicine (Baltimore) 81(4):251-259.
30. MacDonald ME, Vonsattel JP, Shrinidhi J, Couropmitree NN, Cupples LA, Bird ED, Gusella JF, Myers RH. 1999. Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology 53(6):1330-1332.
31. Maller RA, Zhou X. 1996. Survival analysis with long-term survivors. Chichester/New York: Wiley. xvi, 278p.
32. MarshallAW,Olkin I. 2007. Life distributions: Structure of nonparametric, semiparametric, and parametric families. New York/London: Springer. xviii, 782p.
33. Metzger S, Rong J, Nguyen HP, Cape A, Tomiuk J, Soehn A, Propping P, Freudenberg-Hua Y, Freudenberg J, Tong L, Li SH, Li XJ, Riess O. 2008. Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. Hum Mol Genet 17(8):1137-1146.
34. Neter J, Wasserman W,KutnerMH.1990. Applied linear statistical models: Regression, analysis of variance, and experimental designs. Homewood, IL: Irwin. xvi, 1181p.
35. Paulsen JS, Hayden M, Stout JC, Langbehn DR, Aylward E, Ross CA, Guttman M, Nance M, Kieburtz K, Oakes D, Shoulson I, Kayson E, Johnson S, Penziner E, Predict HDI of the HSG. 2006. Preparing for preventive clinical trials: The Predict-HD study. Arch Neurol 63(6): 883-890.
36. Paulsen JS, Langbehn DR, Stout JC, Aylward E, Ross CA, Nance M, Guttman M, Johnson S, McDonald M, Beglinger LJ, Duff K, Kayson E, Biglan K, Shoulson I, Oakes D, Hayden M. 2008. Detection of Huntington's disease decades before diagnosis: The Predict HD study. J Neurol Neurosurg Psychiatry 79(8):874-880.
37. Ranen NG, Stine OC, Abbott MH, Sherr M, Codori AM, Franz ML, Chao NI, Chung AS, Pleasant N, Callahan C, et al. 1995. Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease. Am J Hum Genet 57(3):593-602.
38. Raychaudhuri S, Sinha M, Mukhopadhyay D, Bhattacharyya NP. 2008. HYPK, a Huntingtin interacting protein, reduces aggregates and apoptosis induced by N-terminal Huntingtin with 40 glutamines in Neuro2a cells and exhibits chaperone-like activity. Hum Mol Genet 17(2): 240-255.
39. Rubinsztein DC, Leggo J, Coles R, Almqvist E, Biancalana V, Cassiman JJ, Chotai K, Connarty M, Crauford D, Curtis A, Curtis D, Davidson MJ, Differ AM, Dode C, Dodge A, Frontali M, Ranen NG, Stine OC, Sherr M, Abbott MH, Franz ML, Graham CA, Harper PS, Hedreen JC, Hayden MR, et al. 1996. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HDcases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 59(1):16-22.
40. Rubinsztein DC, Leggo J, Chiano M, Dodge A, Norbury G, Rosser E, Craufurd D. 1997. Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease. Proc Natl Acad Sci USA 94(8):3872-3876.
41. Sen PK, Singer JM. 1993. Large sample methods in statistics: An introduction with applications. New York: Chapman & Hall. xii, 382p.
42. Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald ME, Gusella JF, Harper PS, Shaw DJ. 1993. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 4(4):393-397.
43. Squitieri F, Sabbadini G, Mandich P, Gellera C, Di Maria E, Bellone E, Castellotti B, Nargi E, de Grazia U, Frontali M, Novelletto A. 2000. Family and molecular data for a fine analysis of age at onset in Huntington disease. Am J Med Genet 95(4):366-373.
44. Stine OC, Pleasant N, Franz ML, Abbott MH, Folstein SE, Ross CA. 1993.Correlation between the onset age ofHuntington's disease and length of the trinucleotide repeat in IT-15. Hum Mol Genet 2(10): 1547-1549.
45. Therneau TM, Grambsch PM. 2000. Modeling survival data: Extending the Cox model. New York: Springer. xiii, 350p.
46. Trottier Y, Biancalana V, Mandel JL. 1994. Instability of CAG repeats in Huntington's disease: Relation to parental transmission and age of onset. J Med Genet 31(5):377-382.
47. Venables WN, Ripley BD, Venables WN. 2002. Modern applied statistics with S. New York: Springer. xi, 495p.
48. Vuillaume I, Vermersch P, Destee A, Petit H, Sablonniere B. 1998. Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease. J Neurol Neurosurg Psychiatry 64(6): 758-762.
49. Warby SC, Montpetit A, Hayden AR, Carroll JB, Butland SL, Visscher H, Collins JA, Semaka A, Hudson TJ, Hayden MR. 2009. CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet 84(3):351-366.
50. Warner JP, Barron LH, Brock DJ. 1993. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 7(3):235-239.