Genetic Factors Affecting Age of Onset in Huntington's Disease
Author Information
Author(s): Li Jian-Liang, Hayden Michael R, Warby Simon C, Durr Alexandra, Morrison Patrick J, Nance Martha, Ross Christopher A, Margolis Russell L, Rosenblatt Adam, Squitieri Ferdinando, Frati Luigi, Gómez-Tortosa Estrella, García Carmen Ayuso, Suchowersky Oksana, Klimek Mary Lou, Trent Ronald J A, McCusker Elizabeth, Novelletto Andrea, Frontali Marina, Paulsen Jane S, Jones Randi, Ashizawa Tetsuo, Lazzarini Alice, Wheeler Vanessa C, Prakash Ranjana, Xu Gang, Djoussé Luc, Mysore Jayalakshmi Srinidhi, Gillis Tammy, Hakky Michael, Cupples L Adrienne, Saint-Hilaire Marie H, Cha Jang-Ho J, Hersch Steven M, Penney John B, Harrison Madaline B, Perlman Susan L, Zanko Andrea, Abramson Ruth K, Lechich Anthony J, Duckett Ayana, Marder Karen, Conneally P Michael, Gusella James F, MacDonald Marcy E, Myers Richard H
Primary Institution: Boston University School of Medicine
Hypothesis
Can genetic modifiers influence the age at neurological onset in Huntington's disease?
Conclusion
The study confirmed significant linkage for a genetic modifier of age at onset in Huntington's disease at the 6q23-24 region.
Supporting Evidence
- The study involved a total of 753 sibling pairs from 352 pedigrees.
- Significant linkage was confirmed at the 6q23-24 region with a LOD score of 4.05.
- The follow-up sample provided additional evidence for genetic modifiers affecting age at onset.
Takeaway
This study found a specific part of the DNA that can change when people with Huntington's disease start showing symptoms, which could help in finding new treatments.
Methodology
The study used a follow-up sample of sibling pairs and performed linkage analysis to identify genetic modifiers.
Limitations
The study may not have adequately sampled families carrying modifier genes from certain regions.
Participant Demographics
The study involved 753 sibling pairs from 352 pedigrees, including both newly recruited and original samples.
Statistical Information
P-Value
0.00001
Statistical Significance
p<0.00001
Digital Object Identifier (DOI)
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