Mutation analysis of Parkinson's disease genes in a Russian data set

Common variants and risk factors related to familial and sporadic cases of Parkinson's disease (PD) in diverse populations have been identified at numerous genomic loci. In this study, genetic analysis was performed through a screening of LRRK2 G2019S, GBA mutations (L444P, N370S), and common variants (E326K, T369M) in 762 PD patients and in 400 controls. Next-generation sequencing analysis of 22 PD-related genes in 28 early-onset PD cases from North-Western region of Russia was performed. The frequency of LRRK2 G2019S mutation was 5.8% in familial and 0.5% in sporadic PD cases. The frequency of GBA mutations (L444P, N370S) in PD patients was higher compared to controls (odds ratio [OR] = 6.9, 95% confidence interval [CI], 0.9-53.13, p = 0.031), particularly in patients with early-onset compared to late-onset PD (OR = 3.90 [95% CI, 1.2-13.2], p = 0.009). The frequency of E326K and T369M was twice higher among PD patients than in controls (OR = 2.24, 95% CI 1.05-4.79, p = 0.033). However, the screening of 22 PD-related genes using our novel panel of gene resequencing in our series of 28 early-onset PD failed to identify any mutations. LRRK2 and GBA mutations were found to be common risk factors for PD in North-Western region of Russia.