Authors
Anton K Emelyanov, Tatiana S Usenko, Christelle Tesson, Konstantin A Senkevich, Mikhail A Nikolaev, Irina V Miliukhina, Alena E Kopytova, Alla A Timofeeva, Andrey F Yakimovsky, Suzanne Lesage, Alexis Brice, Sofya N Pchelina
Publication date
2018/11/1
Journal
Neurobiology of Aging
Volume
71
Pages
267. e7-267. e10
Publisher
Elsevier
Description
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 …
Total citations
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Scholar articles
AK Emelyanov, TS Usenko, C Tesson, KA Senkevich… - Neurobiology of Aging, 2018