Alpha-synuclein mRNA isoform formation and translation affected by polymorphism in the human SNCA 3'UTR.
Elizabeth S BarrieSung-Ha LeeJohn T FraterMaria KatakiDouglas W ScharreWolfgang SadeePublished in: Molecular genetics & genomic medicine (2018)
Here, we identify two cis-acting regulatory variants affecting SNCA mRNA expression, measured by allelic ratios in the 3'UTR. The rs17016074 minor A allele is associated with higher expression of luciferase protein activity. Resolving the genetic influence of SNCA polymorphisms requires study of the interactions between multiple regulatory variants with distinct frequencies among populations.