Downloads – GWAS Studies

GWAS Studies

SNP genotyping initiative conducted by the GeM-HD (Genetic Modifiers of Huntington’s Disease) Group designed to identify genetic variations in human HD subjects that influence the pathogenesis and expression of Huntington’s disease.

• Lee JM, Wheeler VC, Chao MJ, Vonsattel JP, Pinto RM, Lucente D, Abu-Elneel K, Ramos EM, Mysore JS, Gillis T, MacDonald ME, Gusella JF, Harold D, Stone TC, Escott-Price V, Han J, Vedernikov A, Holmans P, Jones L, Kwak S, Mahmoudi M, Orth M, Landwehrmeyer GB, Paulsen JS, Dorsey ER, Shoulson I, Myers RH., Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease, Cell., 162, 516-26 (2015).
• Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium, Jong-Min Lee, Kevin Correia, Jacob Loupe, Kyung-Hee Kim, Douglas Barker, Eun Pyo Hong, Michael J Chao, Jeffrey D. Long, Diane Lucente, Jean-Paul Vonsattel, RicardoMouro Pinto, Kawther Abu Elneel, Eliana Marisa Ramos, Jayalakshmi SrinidhiMysore, Tammy Gillis, Vanessa C. Wheeler, Marcy E. MacDonald, James FGusella, Thomas Massey, Branduff McAllister, Christopher Medway, Timothy CStone, Lynsey Hall, Lesley Jones, Peter Holmans, Seung Kwak, Anka Ehrhardt, Cristina Sampaio, Marc Ciosi, Alastair Maxwell, Afroditi Chatzi, Darren GMonckton, Michael Orth, G. Bernhard Landwehrmeyer, Jane S Paulsen, E. RayDorsey, Ira Shoulson, Richard H Myers, Huntington’s disease onset is determined by length of uninterrupted CAG, not encoded polyglutamine, and is modified by DNA maintenance mechanisms.
• Galen E.B. Wright, Jennifer A. Collins, Chris Kay, Cassandra McDonald, Egor Dolzhenko, Qingwen Xia, Kristina Bečanović, Alicia Semaka, Charlotte M. Nguyen, Brett Trost, Fiona Richards, Emilia K. Bijlsma, Ferdinando Squitieri, Stephen W. Scherer, Michael A. Eberle, Ryan K.C. Yuen, Michael R. Hayden, Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease.