The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease
Abstract
Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. Past studies have shown that the size of expanded CAG repeat is inversely associated with age at onset (AO) of HD. It is not known whether the normal Huntington allele size influences the relation between the expanded repeat and AO of HD. Data collected from two independent cohorts were used to test the hypothesis that the unexpanded CAG repeat interacts with the expanded CAG repeat to influence AO of HD. In the New England Huntington Disease Center Without Walls (NEHD) cohort of 221 HD affected persons and in the HD‐MAPS cohort of 533 HD affected persons, we found evidence supporting an interaction between the expanded and unexpanded CAG repeat sizes which influences AO of HD (P = 0.08 and 0.07, respectively). The association was statistically significant when both cohorts were combined (P = 0.012). The estimated heritability of the AO residual was 0.56 after adjustment for normal and expanded repeats and their interaction. An analysis of tertiles of repeats sizes revealed that the effect of the normal allele is seen among persons with large HD repeat sizes (47–83). These findings suggest that an increase in the size of the normal repeat may mitigate the expression of the disease among HD affected persons with large expanded CAG repeats. © 2003 Wiley‐Liss, Inc.
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Only 50% to 70% of the variation in HD onset age can be attributed to CAG repeat size.
“only 50% to 70% of the variation can be attributed to repeat size [3,4].”
From miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement (2015) · cites this paper as [4]
HD onset age is unequivocally related to the size of the expanded CAG repeat, with longer repeats leading to earlier onset.
“While onset age is unequivocally related to the size of the expanded CAG repeat, with longer repeats leading to earlier onset, only 50% to 70% of the variation can be attributed to repeat size [3,4].”
From miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement (2015) · cites this paper as [4]
CAG-adjusted residuals were calculated for all continuous clinical traits to avoid confounding by the known strong relationship between HTT CAG repeat size and disease pathology and onset.
“To avoid confounding the analysis of these clinical features by the known, strong relationship between HTT CAG repeat size and disease pathology and onset [4,28,31,32], CAG-adjusted residuals were calculated for all continuous clinical traits”
From miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement (2015) · cites this paper as [4]
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Self-citationTrinucleotide repeat length instability and age of onset in Huntington's disease
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Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
Lee, J.-M., Wheeler, V. C., Chao, M. J., Vonsattel, J. P. G., Pinto, R. M., Lucente, D., Abu-Elneel, K., Ramos, E. M., Mysore, J. S., Gillis, T., et al. (2015) · Cell · doi:10.1016/j.cell.2015.07.003 · Cited by 655
“We and others have reported that the remaining variance has a large heritable component, implicating the actions of other genetic variations in modifying HD pathogenesis and suggesting that the difference between predicted and observed age of onset could be used in genetic studies to identify modifiers (Djoussé et al.…”
Self-citationPaulsen, J. S., Nance, M., Kim, J.-I., Carlozzi, N. E., Panegyres, P. K., Erwin, C., Goh, A., McCusker, E., & Williams, J. K. (2013) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2013.08.003 · Cited by 168
Self-citationHoss, A. G., Labadorf, A., Latourelle, J. C., Kartha, V. K., Hadzi, T. C., Gusella, J. F., MacDonald, M. E., Chen, J.-F., Akbarian, S., Weng, Z., et al. (2015) · BMC Medical Genomics · doi:10.1186/s12920-015-0083-3 · Cited by 151
Self-citation
Metadata
- Authors
- Djoussé, L., Knowlton, B., Hayden, M., Almqvist, E. W., Brinkman, R., Ross, C., Margolis, R., Rosenblatt, A., Durr, A., Dode, C., Morrison, P. J., Novelletto, A., Frontali, M., Trent, R. J. A., McCusker, E., Gómez‐Tortosa, E., Mayo, D., Jones, R., Zanko, A., Nance, M., Abramson, R., Suchowersky, O., Paulsen, J., Harrison, M., Yang, Q., Cupples, L. A., Gusella, J. F., MacDonald, M. E., & Myers, R. H.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2003-04-23
- Volume
- 119A
- Issue
- 3
- Pages
- 279-282
- ISSN
- 1552-4825
- 1552-4833
- Cited by
- 135
- References
- 2
- Language
- en
- Funders
- Huntington's Disease Center Without Walls (PHS Grant) (P50NS016367)
- The Massachusetts Huntington's Disease Society of America
- The Coalition for the Cure of HDSA
- The Jerry and Hazel McDonald Huntington's Disease Research Fund
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