Objective: Analysis the associations between the polymorphism E326K of the glucocerebrosidase gene (GBA) and Parkinson’s disease (PD) in Russian population.

Background: Parkinson’s disease is one of the most common neurodegenerative diseases and it caused by the interactions between the genetic and environmental factors. Mutations in the GBA gene were originally reported in patients with autosomal recessive lysosomal storage disorder Gaucher disease (GD) and subsequently identified in patients with Gaucher’s disease and parkinsonism. Mutations in GBA were shown to be high risk factors of PD development in many populations including Russia. E326K mostly known as polymorphism, non-pathological variant, has been associated with PD in several studies increasing risk of PD development in two times.

Methods: PD patients (372) and (120) healthy controls were recruited from Neurodegenerative Disease Institute, Experimental Medicine Clinic and Neurology ward of Pavlov First Saint-Petersburg State Medical University in Saint-Petersburg, Russia. All subjects were genotyped for E326K variant using PCR and restriction analysis.

Results: The frequencies of E326K variant were 0,022 in PD patients and 0,017 in controls, correspondently. There were no statistically significant differences in E226K frequencies between PD and healthy controls (p=0,74) .

Conclusions: There is no association between E326K GBA polymorphism and Parkinson’s disease in Russia.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/e326k-gba-polymorphism-and-parkinsons-disease-in-russian-population/