GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations

A study identified the GCH1 p.Ser80Asn genetic variant as a risk factor for Parkinson's disease (PD) in East Asian populations. The variant was first discovered in a Malaysian Chinese family with PD using whole genome sequencing. Analysis of data from 22,372 PD patients and 8,826 controls from the global GP2 program showed that the variant is enriched in East Asian populations (0.33%) but was not detected in other ethnic groups. Meta-analysis confirmed increased PD risk in East Asian populations with an odds ratio of 5.1 (95% CI: 2.3-10.7). Patients carrying this variant had a mean age of disease onset of 56.3 years and frequently exhibited dystonia, while dementia was rare. This is a rare variant specific to East Asian populations.