FBRSL1 – Parkinson Disease

FBRSL1 has emerged as a candidate risk locus for Parkinson disease based on evidence from two independent genome‑wide association studies. In a European meta‑analysis of 3,212 PD cases, suggestive associations with motor subtype variability were observed (PMID:33987465), while a replication study in a Chinese cohort further supported an association via the variant rs11610045 (p = 0.02) (PMID:34352340). Although the observed effect sizes are modest, the concordant signals across distinct populations indicate that variation in FBRSL1 may modify the clinical presentation of Parkinson disease.

Functional studies linking FBRSL1 directly to Parkinson disease are currently limited. Reported truncating variants, such as c.487C>T (p.Gln163Ter), underscore the potential for loss‑of‑function to contribute to neurodevelopmental anomalies; however, these investigations pertain to other phenotypes rather than Parkinson disease. In the absence of robust functional data specific to PD, further mechanistic studies are warranted. Key take‑home: FBRSL1 represents a promising candidate locus for refining Parkinson disease risk stratification and diagnostic decision‑making, even as additional research is needed to fully establish its pathogenic role.

References

• Neurology. Genetics • 2021 • Genome‑Wide Association Study Meta‑Analysis for Parkinson Disease Motor Subtypes PMID:33987465
• Neuroscience Letters • 2021 • Association analysis and polygenic risk score evaluation of 38 GWAS‑identified Loci in a Chinese population with Parkinson's disease PMID:34352340

Evidence Based Scoring (AI generated)