This systematic review and meta-analysis of 51 studies reports that heterozygous GBA1 L444P carriers have a markedly increased risk of Parkinson's disease (pooled OR ~9.2) across ancestral groups.
By providing robust, mutation-specific evidence that L444P is a high-penetrance PD risk variant, the study strengthens justification for GBA1/GCase- and lysosomal-targeted therapies, informs patient stratification and trial enrichment, and highlights gaps in diverse genetic data.