A novel and functional variant within the ATG5 gene promoter in sporadic Parkinson's disease

► The ATG5 gene promoter was analyzed in sporadic PD patients and healthy controls. ► One novel heterozygous variant, 106774459T>A, was identified in one PD patient. ► This variant significantly enhanced transcriptional activity of the ATG5 gene promoter. ► ATG5 transcript level in the same PD patient was significantly elevated. ► The variant identified in PD may contribute to the PD onset as a risk factor.