[Articles] Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation.

Source: Lancet Neurology - June 19, 2017 Category: Neurology Authors: Davina J Hensman Moss, Antonio F Pardi ñas, Douglas Langbehn, Kitty Lo, Blair R Leavitt, Raymund Roos, Alexandra Durr, Simon Mead, TRACK-HD investigators, REGISTRY investigators, Peter Holmans, Lesley Jones, Sarah J Tabrizi Tags: Articles Source Type: research