A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease.

Lasse PihlstrømCornelis BlauwendraatChiara CappellettiVictoria Berge-SeidlMargrete LangmyhrSandra Pilar HenriksenWilma D J van de BergJ Raphael GibbsMark R Cooksonnull nullnull nullAndrew B SingletonMike A NallsMathias Toft

Published in: Annals of neurology (2018)

The SNCA locus harbors a minimum of 3 independent association signals for Parkinson disease. We demonstrate a fine-grained stratification of α-synuclein-related genetic burden in individual patients of potential future clinical relevance. Further efforts to pinpoint the functional mechanisms are warranted, including studies of the likely causal top variant rs356182 and its role in regulating levels of specific SNCA mRNA transcript variants. Ann Neurol 2018;83:117-129.

Keyphrases

parkinson disease
deep brain stimulation
end stage renal disease
copy number
ejection fraction
newly diagnosed
chronic kidney disease
genome wide
molecular dynamics
gene expression
binding protein
quality improvement
patient reported outcomes
climate change
human health
case control