In summary, we have identified functional PD-related rare and polymorphic SNVs in the ANKK1 locus that act in cis regulatory DNA elements of ANKK1. The knowledge of ANKK1 as a new susceptibility gene for PD shows the relevance of both rare variants and non-coding gene regulatory regions in PD genetics and will help to understand pathophysiological aspects of dopaminergic vulnerability in PD. This evidence concerns the gene ANKK1 and Parkinson disease.