Whole-genome sequencing reveals an association between small genomic deletions and an increased risk of developing Parkinson’s disease

Parkinson’s disease: genetic risk factors in a Korean population A whole-genome sequencing study of Korean individuals with Parkinson’s disease (PD) has identified several new genetic risk factors, ranging from single nucleotide variations (SNVs) to larger DNA deletions. PD is the second most prevalent neurodegenerative disease globally, but most studies have focused on SNVs in European populations. Using whole-genome sequencing, Ji-Hye Oh at the University of Ulsan, Seoul, South Korea, and co-workers were able to identify genetic differences between PD patients and healthy controls, including deletions, gains, and several new SNVs. In particular, deletions of small non-coding regions that regulate gene expression may be key contributors to PD. These results provide a whole-genome perspective on genetic risk factors for PD in a Korean population, and illuminate how a whole-genome sequencing approach may be helpful in identifying genetic factors underlying other diseases.