A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.

ABSTRACT: Given the established association between numerous GBA1 variants and specific neurological diseases, we extended the exploration by a phenome-wide association study to assess the impact of GBA1 variants on a wider spectrum of health-related traits. We identified 41 phenotypes associated with GBA1 variants, 39 of which were unreported, including 21 non-neurological and 20 neurological phenotypes. Based on variant-level association tests, we found beyond the neurological phenotypes particularly decreased gray-white matter contrast measures across 13 distinct brain regions, the non-coding variant rs9628662 was associated with six non-neurological traits such as hypermetropia. Another non-coding variant rs3115534 showed associations with eight biomarkers of multiple categories, and an increase

SUBMITTER: Yang J 

PROVIDER: S-EPMC11914287 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature