rs2010795

This is a intron variant variant in the PDXK gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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Single‐cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene
AssociationN=4,034Elstner M. et al.(2009)· Annals of Neurology

This candidate gene association study combined single-cell genome-wide expression profiling of dopaminergic neurons from Parkinson's disease patients with genetic association analysis in three independent cohorts. The authors identified rs2010795 in PDXK (pyridoxal kinase) as significantly associated with PD risk in German patients (p=0.00032, OR=1.319) and confirmed the association in British (p=0.028) and Italian (p=0.0025) cohorts, achieving combined significance of p=1.2×10⁻⁷ (OR=1.30; 95% CI, 1.18-1.44) across 1,232 PD cases and 2,802 controls.

Traits studied:Parkinson's disease
PubMedDOIMetascience Observatory

About PDXK

The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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