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Recent multi‑ancestry studies have identified SYBU (HGNC:26011) as one of several novel loci significantly associated with Parkinson disease (MONDO_0005180). A large‑scale meta‑analysis, including 49,049 cases and 2,458,063 controls, detected 78 independent genome‑wide significant loci; among these, SYBU emerged as a risk factor across diverse populations (PMID:38155330).
Complementary evidence from a prodromal cohort study further supports SYBU’s involvement in Parkinson disease. In this study of 304 participants, variant call format (VCF) analysis in prodromal patients revealed novel variation signals in SYBU and 11 other genes, underscoring its potential for early risk prediction (PMID:38732343).
The genetic evidence is bolstered by the replication of association signals across independent datasets, reinforcing the association with Parkinson disease. Although specific rare coding variants were not detailed in the supplied evidence, the robust statistical findings across large cohorts solidify SYBU’s role as an important risk locus.
While the epidemiological data are compelling, there is a paucity of direct functional or experimental studies investigating the mechanistic role of SYBU in Parkinson disease. As such, the current functional evidence remains limited, and further research is warranted to elucidate the underlying biological pathways.
In summary, the integration of genome‑wide association data with supportive prodromal findings provides strong genetic evidence for SYBU’s contribution to Parkinson disease risk. This association holds promise for diagnostic decision‑making and the development of early screening strategies in clinical and commercial settings.
Key Take‑home sentence: SYBU represents a promising genetic marker for Parkinson disease, meriting further functional studies to better inform clinical applications.
Gene–Disease AssociationStrongA multi‑ancestry meta‑analysis with 49,049 cases (PMID:38155330) and supportive prodromal data from 304 participants (PMID:38732343) substantiate a strong gene‑disease association. Genetic EvidenceStrongBoth studies identify SYBU among novel genome‑wide significant loci, reinforcing its contribution to Parkinson disease risk across diverse populations. Functional EvidenceLimitedNo direct functional assays are provided; current experimental evidence is limited, indicating the need for further mechanistic studies. |