Article
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.
Human genetics - 1 Dec 2012
Ramos Eliana Marisa, Latourelle Jeanne C, Lee Ji-Hyun, Gillis Tammy, Mysore Jayalakshmi S, Squitieri Ferdinando, Di Pardo Alba, Di Donato Stefano, Hayden Michael R, Morrison Patrick J, Nance Martha, Ross Christopher A, Margolis Russell L, Gomez-Tortosa Estrella, Ayuso Carmen, Suchowersky Oksana, Trent Ronald J, McCusker Elizabeth, Novelletto Andrea, Frontali Marina, Jones Randi, Ashizawa Tetsuo, Frank Samuel, Saint-Hilaire Marie-Helene, Hersch Steven M, Rosas Herminia D, Lucente Diane, Harrison Madaline B, Zanko Andrea, Marder Karen, Gusella James F, Lee Jong-Min, Alonso Isabel, Sequeiros Jorge, Myers Richard H, Macdonald Marcy E
Abstract excerpt
Huntington's disease (HD) is an inherited neurodegenerative disorder characterized by motor, cognitive and behavioral disturbances, caused by the expansion of a CAG trinucleotide repeat in the HD gene. The CAG allele size is the major determinant of age at onset (AO) of motor symptoms, although the remaining variance in AO is highly heritable. The rs7665116 SNP in PPARGC1A, encoding the mitochondrial regulator...
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