Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

  title={Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset},
  author={Eliana Marisa Ramos and Jeanne Latourelle and Ji-Hyun Lee and Tammy Gillis and Jayalakshmi Srinidhi Mysore and Ferdinando Squitieri and Alba Di Pardo and Stefano Di Donato and Michael R. Hayden and Patrick John Morrison and Martha A. Nance and Christopher A. Ross and Russell L. Margolis and Estrella G{\'o}mez-Tortosa and Carmen Ayuso and Oksana Suchowersky and Ronald J. A. Trent and E. A. McCusker and Andrea Novelletto and Marina Frontali and Randi Jones and Tetsuo Ashizawa and Samuel A. Frank and Marie-H{\'e}l{\`e}ne Saint-Hilaire and Steven M. Hersch and H. Diana Rosas and Diane E Lucente and Madaline B. Harrison and Andrea Zanko and Karen S. Marder and James F. Gusella and Jong-Min Lee and Isabel Alonso and J Sequeiros and Richard H. Myers and Marcy E. MacDonald},
  booktitle={Human Genetics},
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 PGC-1α, has been reported to be a significant modifier of AO in three European HD… CONTINUE READING
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