DGKQ and Parkinson Disease

Evidence assessing the association between DGKQ (HGNC:2856) and Parkinson disease (MONDO_0005180) remains limited. A case‑control study in a Chinese cohort reported that the DGKQ variant rs11248060 showed significant differences in genotype and allele frequencies between Parkinson disease patients and controls (PMID:23618683). In contrast, a separate study in a Malay population failed to replicate this association (PMID:33559030), and a pilot gene‐capture sequencing study identified a novel DGKQ coding variant, c.823G>T (p.Asp275Tyr), which did not reach statistical significance (PMID:25997059). No DGKQ‑specific functional assays have been reported, with functional evidence at the locus largely driven by studies focused on TMEM175 (PMID:31658403).

Taken together, while one study supports an association of DGKQ with altered risk for Parkinson disease, conflicting results across independent cohorts and absent functional evidence limit the clinical validity of DGKQ as a primary driver. Additional studies are needed to clarify its role; however, clinicians should remain aware of the emerging yet currently limited evidence for DGKQ in Parkinson disease with potential future diagnostic utility.

References

• Annals of Neurology • 2020 • Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies PMID:31658403
• Neurological Sciences • 2021 • Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry PMID:33559030
• Journal of Clinical Neuroscience • 2013 • GAK rs1564282 and DGKQ rs11248060 increase the risk for Parkinson's disease in a Chinese population PMID:23618683
• Medicine • 2015 • Target gene capture sequencing in Chinese population of sporadic Parkinson disease PMID:25997059

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