Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.

Janneke C van den BergenMonika HillerStefan BöhringerLinda VijfhuizenHendrika B GinjaarAmina ChaouchKate BushbyVolker StraubMariacristina ScotoSebahattin CirakVéronique HumbertclaudeMireille ClaustresChiara ScottonChiara PassarelliHanns LochmüllerFrancesco MuntoniSylvie Tuffery-GiraudAlessandra FerliniAnnemieke M Aartsma-RusJan J G M VerschuurenPeter Ac 't HoenPietro Spitali

Published in: Journal of neurology, neurosurgery, and psychiatry (2014)

This study underlines the importance of replicating genetic association studies for rare diseases in large independent cohorts to identify the most robust associations. We anticipate that genotyping of validated genetic associations will become important for the design and interpretation of clinical trials.

Keyphrases

duchenne muscular dystrophy
genome wide
copy number
clinical trial
dna methylation
high throughput
randomized controlled trial
gene expression
phase ii
muscular dystrophy