A study was conducted to evaluate the theory that GBA haplotypes, detected by intronic variants, can impact age at diagnosis of Parkinson’s disease (PD). This was done using long reads over a large group of patients with PD and the publicly accessible Accelerating Medicines Partnership-Parkinson’s Disease (AMP-PD) group.

The researchers employed a new group of patients with PD via the Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease study (RAPSODI) and using Oxford Nanopore technology to the sequence of GBA. In addition, genetic and clinical information on the whole AMP-PD group were taken from amp-pd.org.

The results were drawn after analyzing 1417 participants for this study. It was concluded that the intronic haplotypes in the GBA gene didn’t impact the age at diagnosis of PD.

Reference link- movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.28616