GALNT17 – Parkinson Disease

This summary provides an integrative evaluation of the association between GALNT17 (HGNC:16347) and Parkinson disease (MONDO_0005180). Two independent genome‑wide association studies have explored the potential role of the GALNT17 locus — also referred to as WBSCR17 in these contexts — in modifying the risk for Parkinson disease. In one study of European and East Asian populations, the WBSCR17 variant (rs9638616) demonstrated a significant association with Parkinson disease exclusively in the East Asian cohort (PMID:33760272).

A subsequent large‐scale meta‑analysis involving Asian and European samples further investigated this locus and noted robust association for the nearby SV2C signal while observing notable heterogeneity for the WBSCR17 marker (I² = 67.1, PMID:32310270). These results suggest that while a genetic association signal is present, it displays population‑specific effects that limit broad applicability.

Given that both studies are based on case‑control designs with large sample sizes (with one study including 9,673 PD patients in a European cohort and pooled data from over 41,000 PD patients, PMID:33760272), the genetic evidence for GALNT17 in Parkinson disease is primarily statistical and has not been accompanied by direct segregation data in families.

Furthermore, although GALNT17 is known to be involved in neurodevelopmental processes from functional studies in other neurological contexts, there are currently no functional assays or experimental models directly linking perturbations in GALNT17 to the pathobiology of Parkinson disease. This gap in experimental validation contributes to the overall cautious interpretation of its clinical validity for Parkinson disease risk.

Overall, the clinical association between GALNT17 and Parkinson disease is best categorized as Limited based on current evidence. The genetic studies suggest a potential risk locus with significant effects in specific populations; however, the absence of consistent segregation data and supporting functional experiments reduces the overall confidence in the association.

Key take‑home sentence: Although GALNT17 shows a statistically significant association with Parkinson disease in certain populations, further replication and mechanistic studies are essential before it can be confidently incorporated into clinical risk stratification strategies.

References

• Movement Disorders • 2021 • Replication of a Novel Parkinson's Locus in a European Ancestry Population PMID:33760272
• JAMA Neurology • 2020 • Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome‑Wide Association Study PMID:32310270

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